Canonical Allele Identifier: CA10627365
Gene: ASAH1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.18056431G>A
GRCh37 chr8:g.17913940G>A
gnomAD v2:
8:17913940 G / A
gnomAD v3:
8:18056431 G / A
gnomAD v4:
chr8-18056431-G-A
Joint Max Group AF 0.25979179 (EAS)
Genomes Max Group AF 0.25979179 (EAS)
ClinVar RCV:
RCV000297068
ClinVar Variation:
362349
dbSNP:
28393365
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18056431G>A , CM000670.2:g.18056431G>A GRCh38
NC_000008.10:g.17913940G>A , CM000670.1:g.17913940G>A GRCh37
NC_000008.9:g.17958220G>A NCBI36
NG_008985.1:g.33568C>T
NG_008985.2:g.33568C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636009.1:c.2148C>T ENSP00000489988.1:n.2148C>T
ENST00000637790.2:c.*1103C>T MANE Select ENSP00000490272.1:n.*1103C>T
ENST00000262097.10:c.*1103C>T ENSP00000262097.6:n.*1103C>T
ENST00000381733.8:c.*1103C>T ENSP00000371152.4:n.*1103C>T
NM_001127505.1:c.*1103C>T NP_001120977.1:n.*1103C>T
NM_001127505.2:c.*1103C>T NP_001120977.1:n.*1103C>T
NM_004315.4:c.*1103C>T NP_004306.3:n.*1103C>T
NM_004315.5:c.*1103C>T NP_004306.3:n.*1103C>T
NM_177924.3:c.*1103C>T NP_808592.2:n.*1103C>T
NM_177924.4:c.*1103C>T NP_808592.2:n.*1103C>T
NM_177924.5:c.*1103C>T MANE Select NP_808592.2:n.*1103C>T
NM_001127505.3:c.*1103C>T NP_001120977.1:n.*1103C>T
NM_001363743.2:c.*1103C>T NP_001350672.1:n.*1103C>T
NM_004315.6:c.*1103C>T NP_004306.3:n.*1103C>T
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