Canonical Allele Identifier: CA631525772
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs1260657244
gnomAD v2: 19-3925944-A-G
gnomAD v3: 19-3925946-A-G
gnomAD v4: 19-3925946-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3925946A>G , CM000681.2:g.3925946A>G GRCh38
NC_000019.9:g.3925944A>G , CM000681.1:g.3925944A>G GRCh37
NC_000019.8:g.3876944A>G NCBI36
NG_012638.1:g.50327A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450849.7:c.*1354A>G MANE Select ENSP00000390941.1:n.*1354A>G
ENST00000450849.6:c.*1354A>G ENSP00000390941.1:n.*1354A>G
ENST00000600960.1:c.2534A>G ENSP00000470842.1:n.2534A>G
ENST00000601323.1:n.439+225A>G
NM_033064.4:c.*1354A>G NP_149053.1:n.*1354A>G
NM_033064.5:c.*1354A>G MANE Select NP_149053.1:n.*1354A>G