Canonical Allele Identifier: CA173134935

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 909274
• ClinVar RCV Id: RCV001160260
• dbSNP Id: rs529468227
• gnomAD v2: 8-17914821-A-T
• gnomAD v3: 8-18057312-A-T
• gnomAD v4: 8-18057312-A-T
• MyVariant Identifiers: chr8:g.17914821A>T (hg19) ; chr8:g.18057312A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057312A>T , CM000670.2:g.18057312A>T	GRCh38
NC_000008.10:g.17914821A>T , CM000670.1:g.17914821A>T	GRCh37
NC_000008.9:g.17959101A>T	NCBI36
NG_008985.1:g.32687T>A
NG_008985.2:g.32687T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*222T>A	ENSP00000371152.4:n.*222T>A
ENST00000518746.2:n.3096T>A
ENST00000520781.6:c.*222T>A	ENSP00000427751.1:n.*222T>A
ENST00000635756.1:c.823T>A
ENST00000635944.1:c.*1246T>A	ENSP00000490195.1:n.*1246T>A
ENST00000635998.1:c.*123T>A	ENSP00000490506.1:n.*123T>A
ENST00000636009.1:c.1267T>A	ENSP00000489988.1:n.1267T>A
ENST00000636033.1:c.*1246T>A	ENSP00000489617.1:n.*1246T>A
ENST00000636050.1:c.*1253T>A	ENSP00000490562.1:n.*1253T>A
ENST00000636128.1:c.*222T>A	ENSP00000489789.1:n.*222T>A
ENST00000636160.1:c.*1302T>A	ENSP00000489651.1:n.*1302T>A
ENST00000636171.1:c.*222T>A	ENSP00000489761.1:n.*222T>A
ENST00000636455.1:c.*308T>A	ENSP00000490502.1:n.*308T>A
ENST00000636494.1:c.*1190T>A	ENSP00000490388.1:n.*1190T>A
ENST00000636563.1:n.1072T>A
ENST00000636577.1:c.*222T>A	ENSP00000490027.1:n.*222T>A
ENST00000636691.1:c.*222T>A	ENSP00000490725.1:n.*222T>A
ENST00000636701.1:c.*1061T>A	ENSP00000489800.1:n.*1061T>A
ENST00000636815.1:c.1327T>A
ENST00000636920.1:c.*1246T>A	ENSP00000490437.1:n.*1246T>A
ENST00000636997.1:c.*222T>A	ENSP00000490093.1:n.*222T>A
ENST00000637013.1:c.*1778T>A	ENSP00000490596.1:n.*1778T>A
ENST00000637014.1:n.1817T>A
ENST00000637095.1:c.*1190T>A	ENSP00000490415.1:n.*1190T>A
ENST00000637244.1:c.*1928T>A	ENSP00000490188.1:n.*1928T>A
ENST00000637343.1:n.2847T>A
ENST00000637429.1:c.*1622T>A	ENSP00000490522.1:n.*1622T>A
ENST00000637484.1:c.*1372T>A	ENSP00000490837.1:n.*1372T>A
ENST00000637528.1:c.*222T>A	ENSP00000490801.1:n.*222T>A
ENST00000637609.1:n.4131T>A
ENST00000637636.1:c.*222T>A	ENSP00000490112.1:n.*222T>A
ENST00000637752.1:n.1852T>A
ENST00000637790.2:c.*222T>A MANE Select	ENSP00000490272.1:n.*222T>A
ENST00000637857.1:n.1776T>A
ENST00000637922.1:c.*222T>A	ENSP00000490071.1:n.*222T>A
ENST00000637991.1:c.*222T>A	ENSP00000489901.1:n.*222T>A
ENST00000638028.1:n.1627T>A
ENST00000638069.1:n.2231T>A
ENST00000262097.10:c.*222T>A	ENSP00000262097.6:n.*222T>A
ENST00000314146.10:c.*222T>A	ENSP00000326970.10:n.*222T>A
ENST00000381733.8:c.*222T>A	ENSP00000371152.4:n.*222T>A
ENST00000520781.5:c.*222T>A	ENSP00000427751.1:n.*222T>A
NM_001127505.1:c.*222T>A	NP_001120977.1:n.*222T>A
NM_001127505.2:c.*222T>A	NP_001120977.1:n.*222T>A
NM_004315.4:c.*222T>A	NP_004306.3:n.*222T>A
NM_004315.5:c.*222T>A	NP_004306.3:n.*222T>A
NM_177924.3:c.*222T>A	NP_808592.2:n.*222T>A
NM_177924.4:c.*222T>A	NP_808592.2:n.*222T>A
XM_005273504.2:c.*222T>A	XP_005273561.1:n.*222T>A
NM_001363743.1:c.*222T>A	NP_001350672.1:n.*222T>A
XM_005273504.3:c.*222T>A	XP_005273561.1:n.*222T>A
NM_177924.5:c.*222T>A MANE Select	NP_808592.2:n.*222T>A
NM_001127505.3:c.*222T>A	NP_001120977.1:n.*222T>A
NM_001363743.2:c.*222T>A	NP_001350672.1:n.*222T>A
NM_004315.6:c.*222T>A	NP_004306.3:n.*222T>A