Canonical Allele Identifier: CA370427538

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17916936T>A (hg19) ; chr8:g.18059427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059427T>A , CM000670.2:g.18059427T>A	GRCh38
NC_000008.10:g.17916936T>A , CM000670.1:g.17916936T>A	GRCh37
NC_000008.9:g.17961216T>A	NCBI36
NG_008985.1:g.30572A>T
NG_008985.2:g.30572A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.1003A>T	ENSP00000371152.4:p.Thr335Ser
ENST00000518746.2:n.2641A>T
ENST00000520781.6:c.880A>T	ENSP00000427751.1:p.Thr294Ser
ENST00000635756.1:c.368A>T
ENST00000635944.1:c.*791A>T	ENSP00000490195.1:n.*791A>T
ENST00000635998.1:c.955A>T	ENSP00000490506.1:p.Thr319Ser
ENST00000636009.1:c.812A>T	ENSP00000489988.1:n.812A>T
ENST00000636033.1:c.*791A>T	ENSP00000489617.1:n.*791A>T
ENST00000636050.1:c.*798A>T	ENSP00000490562.1:n.*798A>T
ENST00000636128.1:c.634A>T	ENSP00000489789.1:p.Thr212Ser
ENST00000636160.1:c.*847A>T	ENSP00000489651.1:n.*847A>T
ENST00000636171.1:c.898A>T	ENSP00000489761.1:p.Thr300Ser
ENST00000636455.1:c.965+145A>T	ENSP00000490502.1:n.965+145A>T
ENST00000636494.1:c.*735A>T	ENSP00000490388.1:n.*735A>T
ENST00000636563.1:n.617A>T
ENST00000636577.1:c.895A>T	ENSP00000490027.1:p.Thr299Ser
ENST00000636691.1:c.760A>T	ENSP00000490725.1:p.Thr254Ser
ENST00000636701.1:c.*606A>T	ENSP00000489800.1:n.*606A>T
ENST00000636815.1:c.872A>T
ENST00000636920.1:c.*791A>T	ENSP00000490437.1:n.*791A>T
ENST00000636997.1:c.868A>T	ENSP00000490093.1:p.Thr290Ser
ENST00000637013.1:c.*1323A>T	ENSP00000490596.1:n.*1323A>T
ENST00000637014.1:n.1362A>T
ENST00000637095.1:c.*735A>T	ENSP00000490415.1:n.*735A>T
ENST00000637244.1:c.*1473A>T	ENSP00000490188.1:n.*1473A>T
ENST00000637343.1:n.2392A>T
ENST00000637429.1:c.*1167A>T	ENSP00000490522.1:n.*1167A>T
ENST00000637484.1:c.*917A>T	ENSP00000490837.1:n.*917A>T
ENST00000637528.1:c.892A>T	ENSP00000490801.1:p.Thr298Ser
ENST00000637609.1:n.3676A>T
ENST00000637636.1:c.949A>T	ENSP00000490112.1:p.Thr317Ser
ENST00000637790.2:c.955A>T MANE Select	ENSP00000490272.1:p.Thr319Ser
ENST00000637857.1:n.1321A>T
ENST00000637922.1:c.760A>T	ENSP00000490071.1:p.Thr254Ser
ENST00000637991.1:c.928A>T	ENSP00000489901.1:p.Thr310Ser
ENST00000638028.1:n.1172A>T
ENST00000638069.1:n.1776A>T
ENST00000262097.10:c.955A>T	ENSP00000262097.6:p.Thr319Ser
ENST00000314146.10:c.937A>T	ENSP00000326970.10:p.Thr313Ser
ENST00000381733.8:c.1003A>T	ENSP00000371152.4:p.Thr335Ser
ENST00000520781.5:c.880A>T	ENSP00000427751.1:p.Thr294Ser
NM_001127505.1:c.937A>T	NP_001120977.1:p.Thr313Ser
NM_001127505.2:c.937A>T	NP_001120977.1:p.Thr313Ser
NM_004315.4:c.1003A>T	NP_004306.3:p.Thr335Ser
NM_004315.5:c.1003A>T	NP_004306.3:p.Thr335Ser
NM_177924.3:c.955A>T	NP_808592.2:p.Thr319Ser
NM_177924.4:c.955A>T	NP_808592.2:p.Thr319Ser
XM_005273504.2:c.889A>T	XP_005273561.1:p.Thr297Ser
NM_001363743.1:c.760A>T	NP_001350672.1:p.Thr254Ser
XM_005273504.3:c.889A>T	XP_005273561.1:p.Thr297Ser
NM_177924.5:c.955A>T MANE Select	NP_808592.2:p.Thr319Ser
NM_001127505.3:c.937A>T	NP_001120977.1:p.Thr313Ser
NM_001363743.2:c.760A>T	NP_001350672.1:p.Thr254Ser
NM_004315.6:c.1003A>T	NP_004306.3:p.Thr335Ser