Canonical Allele Identifier: CA370431819

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064522-A-T
• MyVariant Identifiers: chr8:g.17922031A>T (hg19) ; chr8:g.18064522A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064522A>T , CM000670.2:g.18064522A>T	GRCh38
NC_000008.10:g.17922031A>T , CM000670.1:g.17922031A>T	GRCh37
NC_000008.9:g.17966311A>T	NCBI36
NG_008985.1:g.25477T>A
NG_008985.2:g.25477T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.440T>A	ENSP00000371152.4:p.Ile147Asn
ENST00000519545.6:n.409T>A
ENST00000520781.6:c.383-1292T>A	ENSP00000427751.1:n.383-1292T>A
ENST00000523593.6:c.*235T>A	ENSP00000490700.1:n.*235T>A
ENST00000523744.2:n.4150T>A
ENST00000635769.1:c.413T>A	ENSP00000490485.1:p.Ile138Asn
ENST00000635944.1:c.*228T>A	ENSP00000490195.1:n.*228T>A
ENST00000635998.1:c.392T>A	ENSP00000490506.1:p.Ile131Asn
ENST00000636009.1:c.315-1292T>A	ENSP00000489988.1:n.315-1292T>A
ENST00000636033.1:c.*228T>A	ENSP00000489617.1:n.*228T>A
ENST00000636050.1:c.*235T>A	ENSP00000490562.1:n.*235T>A
ENST00000636128.1:c.382+2698T>A	ENSP00000489789.1:n.382+2698T>A
ENST00000636160.1:c.*284T>A	ENSP00000489651.1:n.*284T>A
ENST00000636171.1:c.383-48T>A	ENSP00000489761.1:n.383-48T>A
ENST00000636299.1:c.*163T>A	ENSP00000490202.1:n.*163T>A
ENST00000636435.1:n.3164T>A
ENST00000636455.1:c.440T>A	ENSP00000490502.1:p.Ile147Asn
ENST00000636494.1:c.*172T>A	ENSP00000490388.1:n.*172T>A
ENST00000636563.1:n.54T>A
ENST00000636577.1:c.383-51T>A	ENSP00000490027.1:n.383-51T>A
ENST00000636691.1:c.197T>A	ENSP00000490725.1:p.Ile66Asn
ENST00000636701.1:c.*43T>A	ENSP00000489800.1:n.*43T>A
ENST00000636815.1:c.309T>A
ENST00000636823.1:c.197T>A	ENSP00000490798.1:p.Ile66Asn
ENST00000636828.1:n.3256T>A
ENST00000636920.1:c.*228T>A	ENSP00000490437.1:n.*228T>A
ENST00000636997.1:c.305T>A	ENSP00000490093.1:p.Ile102Asn
ENST00000637013.1:c.*604T>A	ENSP00000490596.1:n.*604T>A
ENST00000637095.1:c.*172T>A	ENSP00000490415.1:n.*172T>A
ENST00000637244.1:c.*910T>A	ENSP00000490188.1:n.*910T>A
ENST00000637343.1:n.603T>A
ENST00000637429.1:c.*604T>A	ENSP00000490522.1:n.*604T>A
ENST00000637484.1:c.*420-1292T>A	ENSP00000490837.1:n.*420-1292T>A
ENST00000637528.1:c.383-54T>A	ENSP00000490801.1:n.383-54T>A
ENST00000637603.1:c.362T>A	ENSP00000489979.1:p.Ile121Asn
ENST00000637609.1:n.3113T>A
ENST00000637636.1:c.386T>A	ENSP00000490112.1:p.Ile129Asn
ENST00000637638.1:c.392T>A	ENSP00000490774.1:p.Ile131Asn
ENST00000637718.1:c.197T>A	ENSP00000490133.1:p.Ile66Asn
ENST00000637790.2:c.392T>A MANE Select	ENSP00000490272.1:p.Ile131Asn
ENST00000637857.1:n.105-2099T>A
ENST00000637922.1:c.197T>A	ENSP00000490071.1:p.Ile66Asn
ENST00000637991.1:c.431-1292T>A	ENSP00000489901.1:n.431-1292T>A
ENST00000638069.1:n.448T>A
ENST00000262097.10:c.392T>A	ENSP00000262097.6:p.Ile131Asn
ENST00000314146.10:c.374T>A	ENSP00000326970.10:p.Ile125Asn
ENST00000381733.8:c.440T>A	ENSP00000371152.4:p.Ile147Asn
ENST00000519468.5:n.389-2155T>A
ENST00000519545.5:n.406T>A
ENST00000520781.5:c.383-1292T>A	ENSP00000427751.1:n.383-1292T>A
ENST00000523593.5:n.245T>A
ENST00000523744.1:n.395T>A
NM_001127505.1:c.374T>A	NP_001120977.1:p.Ile125Asn
NM_001127505.2:c.374T>A	NP_001120977.1:p.Ile125Asn
NM_004315.4:c.440T>A	NP_004306.3:p.Ile147Asn
NM_004315.5:c.440T>A	NP_004306.3:p.Ile147Asn
NM_177924.3:c.392T>A	NP_808592.2:p.Ile131Asn
NM_177924.4:c.392T>A	NP_808592.2:p.Ile131Asn
XM_005273504.2:c.326T>A	XP_005273561.1:p.Ile109Asn
NM_001363743.1:c.197T>A	NP_001350672.1:p.Ile66Asn
XM_005273504.3:c.326T>A	XP_005273561.1:p.Ile109Asn
NM_177924.5:c.392T>A MANE Select	NP_808592.2:p.Ile131Asn
NM_001127505.3:c.374T>A	NP_001120977.1:p.Ile125Asn
NM_001363743.2:c.197T>A	NP_001350672.1:p.Ile66Asn
NM_004315.6:c.440T>A	NP_004306.3:p.Ile147Asn