Canonical Allele Identifier: CA173141596

Gene: ASAH1

Linked Data

• dbSNP Id: rs539894393
• gnomAD v2: 8-17919099-C-T
• gnomAD v3: 8-18061590-C-T
• gnomAD v4: 8-18061590-C-T
• MyVariant Identifiers: chr8:g.17919099C>T (hg19) ; chr8:g.17919099_17919100delinsTG (hg19) ; chr8:g.18061590C>T (hg38) ; chr8:g.18061590_18061591delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061590C>T , CM000670.2:g.18061590C>T	GRCh38
NC_000008.10:g.17919099C>T , CM000670.1:g.17919099C>T	GRCh37
NC_000008.9:g.17963379C>T	NCBI36
NG_008985.1:g.28409G>A
NG_008985.2:g.28409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.751+96G>A	ENSP00000371152.4:n.751+96G>A
ENST00000517409.2:n.671+96G>A
ENST00000518746.2:n.2258G>A
ENST00000519545.6:n.720+96G>A
ENST00000520781.6:c.628+96G>A	ENSP00000427751.1:n.628+96G>A
ENST00000521542.2:n.11+96G>A
ENST00000635756.1:c.125+96G>A
ENST00000635944.1:c.*539+96G>A	ENSP00000490195.1:n.*539+96G>A
ENST00000635998.1:c.703+96G>A	ENSP00000490506.1:n.703+96G>A
ENST00000636009.1:c.560+96G>A	ENSP00000489988.1:n.560+96G>A
ENST00000636033.1:c.*539+96G>A	ENSP00000489617.1:n.*539+96G>A
ENST00000636050.1:c.*546+96G>A	ENSP00000490562.1:n.*546+96G>A
ENST00000636128.1:c.383-132G>A	ENSP00000489789.1:n.383-132G>A
ENST00000636160.1:c.*595+96G>A	ENSP00000489651.1:n.*595+96G>A
ENST00000636171.1:c.646+96G>A	ENSP00000489761.1:n.646+96G>A
ENST00000636455.1:c.751+96G>A	ENSP00000490502.1:n.751+96G>A
ENST00000636494.1:c.*483+96G>A	ENSP00000490388.1:n.*483+96G>A
ENST00000636563.1:n.365+96G>A
ENST00000636577.1:c.643+96G>A	ENSP00000490027.1:n.643+96G>A
ENST00000636691.1:c.508+96G>A	ENSP00000490725.1:n.508+96G>A
ENST00000636701.1:c.*354+96G>A	ENSP00000489800.1:n.*354+96G>A
ENST00000636815.1:c.620+96G>A
ENST00000636920.1:c.*539+96G>A	ENSP00000490437.1:n.*539+96G>A
ENST00000636997.1:c.616+96G>A	ENSP00000490093.1:n.616+96G>A
ENST00000637013.1:c.*1071+96G>A	ENSP00000490596.1:n.*1071+96G>A
ENST00000637014.1:n.1110+96G>A
ENST00000637095.1:c.*483+96G>A	ENSP00000490415.1:n.*483+96G>A
ENST00000637244.1:c.*1221+96G>A	ENSP00000490188.1:n.*1221+96G>A
ENST00000637343.1:n.2140+96G>A
ENST00000637429.1:c.*915+96G>A	ENSP00000490522.1:n.*915+96G>A
ENST00000637484.1:c.*665+96G>A	ENSP00000490837.1:n.*665+96G>A
ENST00000637528.1:c.640+96G>A	ENSP00000490801.1:n.640+96G>A
ENST00000637609.1:n.3424+96G>A
ENST00000637636.1:c.697+96G>A	ENSP00000490112.1:n.697+96G>A
ENST00000637790.2:c.703+96G>A MANE Select	ENSP00000490272.1:n.703+96G>A
ENST00000637857.1:n.938G>A
ENST00000637922.1:c.508+96G>A	ENSP00000490071.1:n.508+96G>A
ENST00000637991.1:c.676+96G>A	ENSP00000489901.1:n.676+96G>A
ENST00000638028.1:n.920+96G>A
ENST00000638069.1:n.1393G>A
ENST00000262097.10:c.703+96G>A	ENSP00000262097.6:n.703+96G>A
ENST00000314146.10:c.685+96G>A	ENSP00000326970.10:n.685+96G>A
ENST00000381733.8:c.751+96G>A	ENSP00000371152.4:n.751+96G>A
ENST00000518746.1:n.520+96G>A
ENST00000519468.5:n.532+96G>A
ENST00000520781.5:c.628+96G>A	ENSP00000427751.1:n.628+96G>A
ENST00000521542.1:n.285G>A
NM_001127505.1:c.685+96G>A	NP_001120977.1:n.685+96G>A
NM_001127505.2:c.685+96G>A	NP_001120977.1:n.685+96G>A
NM_004315.4:c.751+96G>A	NP_004306.3:n.751+96G>A
NM_004315.5:c.751+96G>A	NP_004306.3:n.751+96G>A
NM_177924.3:c.703+96G>A	NP_808592.2:n.703+96G>A
NM_177924.4:c.703+96G>A	NP_808592.2:n.703+96G>A
XM_005273504.2:c.637+96G>A	XP_005273561.1:n.637+96G>A
NM_001363743.1:c.508+96G>A	NP_001350672.1:n.508+96G>A
XM_005273504.3:c.637+96G>A	XP_005273561.1:n.637+96G>A
NM_177924.5:c.703+96G>A MANE Select	NP_808592.2:n.703+96G>A
NM_001127505.3:c.685+96G>A	NP_001120977.1:n.685+96G>A
NM_001363743.2:c.508+96G>A	NP_001350672.1:n.508+96G>A
NM_004315.6:c.751+96G>A	NP_004306.3:n.751+96G>A