Canonical Allele Identifier: CA459662204

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1622387
• ClinVar RCV Id: RCV002094552
• dbSNP Id: rs1267149381
• gnomAD v2: 8-17918924-T-A
• MyVariant Identifiers: chr8:g.17918924T>A (hg19) ; chr8:g.18061415T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061415T>A , CM000670.2:g.18061415T>A	GRCh38
NC_000008.10:g.17918924T>A , CM000670.1:g.17918924T>A	GRCh37
NC_000008.9:g.17963204T>A	NCBI36
NG_008985.1:g.28584A>T
NG_008985.2:g.28584A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.795A>T	ENSP00000371152.4:p.Ile265=
ENST00000517409.2:n.715A>T
ENST00000518746.2:n.2433A>T
ENST00000519545.6:n.764A>T
ENST00000520781.6:c.672A>T	ENSP00000427751.1:p.Ile224=
ENST00000521542.2:n.55A>T
ENST00000635756.1:c.160A>T
ENST00000635944.1:c.*583A>T	ENSP00000490195.1:n.*583A>T
ENST00000635998.1:c.747A>T	ENSP00000490506.1:p.Ile249=
ENST00000636009.1:c.604A>T	ENSP00000489988.1:n.604A>T
ENST00000636033.1:c.*583A>T	ENSP00000489617.1:n.*583A>T
ENST00000636050.1:c.*590A>T	ENSP00000490562.1:n.*590A>T
ENST00000636128.1:c.426A>T	ENSP00000489789.1:p.Ile142=
ENST00000636160.1:c.*639A>T	ENSP00000489651.1:n.*639A>T
ENST00000636171.1:c.690A>T	ENSP00000489761.1:p.Ile230=
ENST00000636455.1:c.795A>T	ENSP00000490502.1:p.Ile265=
ENST00000636494.1:c.*527A>T	ENSP00000490388.1:n.*527A>T
ENST00000636563.1:n.409A>T
ENST00000636577.1:c.687A>T	ENSP00000490027.1:p.Ile229=
ENST00000636691.1:c.552A>T	ENSP00000490725.1:p.Ile184=
ENST00000636701.1:c.*398A>T	ENSP00000489800.1:n.*398A>T
ENST00000636815.1:c.664A>T
ENST00000636920.1:c.*583A>T	ENSP00000490437.1:n.*583A>T
ENST00000636997.1:c.660A>T	ENSP00000490093.1:p.Ile220=
ENST00000637013.1:c.*1115A>T	ENSP00000490596.1:n.*1115A>T
ENST00000637014.1:n.1154A>T
ENST00000637095.1:c.*527A>T	ENSP00000490415.1:n.*527A>T
ENST00000637244.1:c.*1265A>T	ENSP00000490188.1:n.*1265A>T
ENST00000637343.1:n.2184A>T
ENST00000637429.1:c.*959A>T	ENSP00000490522.1:n.*959A>T
ENST00000637484.1:c.*709A>T	ENSP00000490837.1:n.*709A>T
ENST00000637528.1:c.684A>T	ENSP00000490801.1:p.Ile228=
ENST00000637609.1:n.3468A>T
ENST00000637636.1:c.741A>T	ENSP00000490112.1:p.Ile247=
ENST00000637790.2:c.747A>T MANE Select	ENSP00000490272.1:p.Ile249=
ENST00000637857.1:n.1113A>T
ENST00000637922.1:c.552A>T	ENSP00000490071.1:p.Ile184=
ENST00000637991.1:c.720A>T	ENSP00000489901.1:p.Ile240=
ENST00000638028.1:n.964A>T
ENST00000638069.1:n.1568A>T
ENST00000262097.10:c.747A>T	ENSP00000262097.6:p.Ile249=
ENST00000314146.10:c.729A>T	ENSP00000326970.10:p.Ile243=
ENST00000381733.8:c.795A>T	ENSP00000371152.4:p.Ile265=
ENST00000518746.1:n.564A>T
ENST00000519468.5:n.576A>T
ENST00000520781.5:c.672A>T	ENSP00000427751.1:p.Ile224=
ENST00000521542.1:n.460A>T
NM_001127505.1:c.729A>T	NP_001120977.1:p.Ile243=
NM_001127505.2:c.729A>T	NP_001120977.1:p.Ile243=
NM_004315.4:c.795A>T	NP_004306.3:p.Ile265=
NM_004315.5:c.795A>T	NP_004306.3:p.Ile265=
NM_177924.3:c.747A>T	NP_808592.2:p.Ile249=
NM_177924.4:c.747A>T	NP_808592.2:p.Ile249=
XM_005273504.2:c.681A>T	XP_005273561.1:p.Ile227=
NM_001363743.1:c.552A>T	NP_001350672.1:p.Ile184=
XM_005273504.3:c.681A>T	XP_005273561.1:p.Ile227=
NM_177924.5:c.747A>T MANE Select	NP_808592.2:p.Ile249=
NM_001127505.3:c.729A>T	NP_001120977.1:p.Ile243=
NM_001363743.2:c.552A>T	NP_001350672.1:p.Ile184=
NM_004315.6:c.795A>T	NP_004306.3:p.Ile265=