Canonical Allele Identifier: CA10652453
Gene: ATCAY HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.3927773G>A
GRCh37 chr19:g.3927771G>A
gnomAD v2:
19:3927771 G / A
gnomAD v3:
19:3927773 G / A
gnomAD v4:
chr19-3927773-G-A
Joint Max Group AF 0.59782044 (SAS)
Genomes Max Group AF 0.59782044 (SAS)
Exomes Max Group AF 0.41393333 (NFE)
ClinVar RCV:
RCV000263045
ClinVar Variation:
329202
dbSNP:
10412199
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3927773G>A , CM000681.2:g.3927773G>A GRCh38
NC_000019.9:g.3927771G>A , CM000681.1:g.3927771G>A GRCh37
NC_000019.8:g.3878771G>A NCBI36
NG_012638.1:g.52154G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*3181G>A MANE Select ENSP00000390941.1:n.*3181G>A
ENST00000450849.6:c.*3181G>A ENSP00000390941.1:n.*3181G>A
NM_033064.4:c.*3181G>A NP_149053.1:n.*3181G>A
NM_033064.5:c.*3181G>A MANE Select NP_149053.1:n.*3181G>A
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