Canonical Allele Identifier: CA370431840

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1414186
• ClinVar RCV Id: RCV001945224 ; RCV002556384
• dbSNP Id: rs1361939719
• gnomAD v2: 8-17922035-T-A
• gnomAD v3: 8-18064526-T-A
• gnomAD v4: 8-18064526-T-A
• MyVariant Identifiers: chr8:g.17922035T>A (hg19) ; chr8:g.18064526T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064526T>A , CM000670.2:g.18064526T>A	GRCh38
NC_000008.10:g.17922035T>A , CM000670.1:g.17922035T>A	GRCh37
NC_000008.9:g.17966315T>A	NCBI36
NG_008985.1:g.25473A>T
NG_008985.2:g.25473A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.436A>T	ENSP00000371152.4:p.Ile146Phe
ENST00000519545.6:n.405A>T
ENST00000520781.6:c.383-1296A>T	ENSP00000427751.1:n.383-1296A>T
ENST00000523593.6:c.*231A>T	ENSP00000490700.1:n.*231A>T
ENST00000523744.2:n.4146A>T
ENST00000635769.1:c.409A>T	ENSP00000490485.1:p.Ile137Phe
ENST00000635944.1:c.*224A>T	ENSP00000490195.1:n.*224A>T
ENST00000635998.1:c.388A>T	ENSP00000490506.1:p.Ile130Phe
ENST00000636009.1:c.315-1296A>T	ENSP00000489988.1:n.315-1296A>T
ENST00000636033.1:c.*224A>T	ENSP00000489617.1:n.*224A>T
ENST00000636050.1:c.*231A>T	ENSP00000490562.1:n.*231A>T
ENST00000636128.1:c.382+2694A>T	ENSP00000489789.1:n.382+2694A>T
ENST00000636160.1:c.*280A>T	ENSP00000489651.1:n.*280A>T
ENST00000636171.1:c.383-52A>T	ENSP00000489761.1:n.383-52A>T
ENST00000636299.1:c.*159A>T	ENSP00000490202.1:n.*159A>T
ENST00000636435.1:n.3160A>T
ENST00000636455.1:c.436A>T	ENSP00000490502.1:p.Ile146Phe
ENST00000636494.1:c.*168A>T	ENSP00000490388.1:n.*168A>T
ENST00000636563.1:n.50A>T
ENST00000636577.1:c.383-55A>T	ENSP00000490027.1:n.383-55A>T
ENST00000636691.1:c.193A>T	ENSP00000490725.1:p.Ile65Phe
ENST00000636701.1:c.*39A>T	ENSP00000489800.1:n.*39A>T
ENST00000636815.1:c.305A>T
ENST00000636823.1:c.193A>T	ENSP00000490798.1:p.Ile65Phe
ENST00000636828.1:n.3252A>T
ENST00000636920.1:c.*224A>T	ENSP00000490437.1:n.*224A>T
ENST00000636997.1:c.301A>T	ENSP00000490093.1:p.Ile101Phe
ENST00000637013.1:c.*600A>T	ENSP00000490596.1:n.*600A>T
ENST00000637095.1:c.*168A>T	ENSP00000490415.1:n.*168A>T
ENST00000637244.1:c.*906A>T	ENSP00000490188.1:n.*906A>T
ENST00000637343.1:n.599A>T
ENST00000637429.1:c.*600A>T	ENSP00000490522.1:n.*600A>T
ENST00000637484.1:c.*420-1296A>T	ENSP00000490837.1:n.*420-1296A>T
ENST00000637528.1:c.383-58A>T	ENSP00000490801.1:n.383-58A>T
ENST00000637603.1:c.358A>T	ENSP00000489979.1:p.Ile120Phe
ENST00000637609.1:n.3109A>T
ENST00000637636.1:c.382A>T	ENSP00000490112.1:p.Ile128Phe
ENST00000637638.1:c.388A>T	ENSP00000490774.1:p.Ile130Phe
ENST00000637718.1:c.193A>T	ENSP00000490133.1:p.Ile65Phe
ENST00000637790.2:c.388A>T MANE Select	ENSP00000490272.1:p.Ile130Phe
ENST00000637857.1:n.105-2103A>T
ENST00000637922.1:c.193A>T	ENSP00000490071.1:p.Ile65Phe
ENST00000637991.1:c.431-1296A>T	ENSP00000489901.1:n.431-1296A>T
ENST00000638069.1:n.444A>T
ENST00000262097.10:c.388A>T	ENSP00000262097.6:p.Ile130Phe
ENST00000314146.10:c.370A>T	ENSP00000326970.10:p.Ile124Phe
ENST00000381733.8:c.436A>T	ENSP00000371152.4:p.Ile146Phe
ENST00000519468.5:n.389-2159A>T
ENST00000519545.5:n.402A>T
ENST00000520781.5:c.383-1296A>T	ENSP00000427751.1:n.383-1296A>T
ENST00000523593.5:n.241A>T
ENST00000523744.1:n.391A>T
NM_001127505.1:c.370A>T	NP_001120977.1:p.Ile124Phe
NM_001127505.2:c.370A>T	NP_001120977.1:p.Ile124Phe
NM_004315.4:c.436A>T	NP_004306.3:p.Ile146Phe
NM_004315.5:c.436A>T	NP_004306.3:p.Ile146Phe
NM_177924.3:c.388A>T	NP_808592.2:p.Ile130Phe
NM_177924.4:c.388A>T	NP_808592.2:p.Ile130Phe
XM_005273504.2:c.322A>T	XP_005273561.1:p.Ile108Phe
NM_001363743.1:c.193A>T	NP_001350672.1:p.Ile65Phe
XM_005273504.3:c.322A>T	XP_005273561.1:p.Ile108Phe
NM_177924.5:c.388A>T MANE Select	NP_808592.2:p.Ile130Phe
NM_001127505.3:c.370A>T	NP_001120977.1:p.Ile124Phe
NM_001363743.2:c.193A>T	NP_001350672.1:p.Ile65Phe
NM_004315.6:c.436A>T	NP_004306.3:p.Ile146Phe