Canonical Allele Identifier: CA10627372

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 362364
• ClinVar RCV Id: RCV000335226
• dbSNP Id: rs115127411
• gnomAD v2: 8-17914709-C-T
• gnomAD v3: 8-18057200-C-T
• gnomAD v4: 8-18057200-C-T
• MyVariant Identifiers: chr8:g.17914709C>T (hg19) ; chr8:g.18057200C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057200C>T , CM000670.2:g.18057200C>T	GRCh38
NC_000008.10:g.17914709C>T , CM000670.1:g.17914709C>T	GRCh37
NC_000008.9:g.17958989C>T	NCBI36
NG_008985.1:g.32799G>A
NG_008985.2:g.32799G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*334G>A	ENSP00000371152.4:n.*334G>A
ENST00000518746.2:n.3208G>A
ENST00000520781.6:c.*334G>A	ENSP00000427751.1:n.*334G>A
ENST00000635756.1:c.935G>A
ENST00000635944.1:c.*1358G>A	ENSP00000490195.1:n.*1358G>A
ENST00000635998.1:c.*235G>A	ENSP00000490506.1:n.*235G>A
ENST00000636009.1:c.1379G>A	ENSP00000489988.1:n.1379G>A
ENST00000636033.1:c.*1358G>A	ENSP00000489617.1:n.*1358G>A
ENST00000636050.1:c.*1365G>A	ENSP00000490562.1:n.*1365G>A
ENST00000636128.1:c.*334G>A	ENSP00000489789.1:n.*334G>A
ENST00000636160.1:c.*1414G>A	ENSP00000489651.1:n.*1414G>A
ENST00000636171.1:c.*334G>A	ENSP00000489761.1:n.*334G>A
ENST00000636455.1:c.*420G>A	ENSP00000490502.1:n.*420G>A
ENST00000636494.1:c.*1302G>A	ENSP00000490388.1:n.*1302G>A
ENST00000636563.1:n.1184G>A
ENST00000636577.1:c.*334G>A	ENSP00000490027.1:n.*334G>A
ENST00000636691.1:c.*334G>A	ENSP00000490725.1:n.*334G>A
ENST00000636701.1:c.*1173G>A	ENSP00000489800.1:n.*1173G>A
ENST00000636815.1:c.1439G>A
ENST00000636920.1:c.*1358G>A	ENSP00000490437.1:n.*1358G>A
ENST00000636997.1:c.*334G>A	ENSP00000490093.1:n.*334G>A
ENST00000637013.1:c.*1890G>A	ENSP00000490596.1:n.*1890G>A
ENST00000637014.1:n.1929G>A
ENST00000637095.1:c.*1302G>A	ENSP00000490415.1:n.*1302G>A
ENST00000637244.1:c.*2040G>A	ENSP00000490188.1:n.*2040G>A
ENST00000637343.1:n.2959G>A
ENST00000637429.1:c.*1734G>A	ENSP00000490522.1:n.*1734G>A
ENST00000637484.1:c.*1484G>A	ENSP00000490837.1:n.*1484G>A
ENST00000637528.1:c.*334G>A	ENSP00000490801.1:n.*334G>A
ENST00000637609.1:n.4243G>A
ENST00000637636.1:c.*334G>A	ENSP00000490112.1:n.*334G>A
ENST00000637752.1:n.1964G>A
ENST00000637790.2:c.*334G>A MANE Select	ENSP00000490272.1:n.*334G>A
ENST00000637857.1:n.1888G>A
ENST00000637922.1:c.*334G>A	ENSP00000490071.1:n.*334G>A
ENST00000637991.1:c.*334G>A	ENSP00000489901.1:n.*334G>A
ENST00000638028.1:n.1739G>A
ENST00000638069.1:n.2343G>A
ENST00000262097.10:c.*334G>A	ENSP00000262097.6:n.*334G>A
ENST00000314146.10:c.*334G>A	ENSP00000326970.10:n.*334G>A
ENST00000381733.8:c.*334G>A	ENSP00000371152.4:n.*334G>A
ENST00000520781.5:c.*334G>A	ENSP00000427751.1:n.*334G>A
NM_001127505.1:c.*334G>A	NP_001120977.1:n.*334G>A
NM_001127505.2:c.*334G>A	NP_001120977.1:n.*334G>A
NM_004315.4:c.*334G>A	NP_004306.3:n.*334G>A
NM_004315.5:c.*334G>A	NP_004306.3:n.*334G>A
NM_177924.3:c.*334G>A	NP_808592.2:n.*334G>A
NM_177924.4:c.*334G>A	NP_808592.2:n.*334G>A
XM_005273504.2:c.*334G>A	XP_005273561.1:n.*334G>A
NM_001363743.1:c.*334G>A	NP_001350672.1:n.*334G>A
XM_005273504.3:c.*334G>A	XP_005273561.1:n.*334G>A
NM_177924.5:c.*334G>A MANE Select	NP_808592.2:n.*334G>A
NM_001127505.3:c.*334G>A	NP_001120977.1:n.*334G>A
NM_001363743.2:c.*334G>A	NP_001350672.1:n.*334G>A
NM_004315.6:c.*334G>A	NP_004306.3:n.*334G>A