Canonical Allele Identifier: CA882082361
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs1256397036
gnomAD v3: 19-3926023-A-C
gnomAD v4: 19-3926023-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926023A>C , CM000681.2:g.3926023A>C GRCh38
NC_000019.9:g.3926021A>C , CM000681.1:g.3926021A>C GRCh37
NC_000019.8:g.3877021A>C NCBI36
NG_012638.1:g.50404A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1431A>C MANE Select ENSP00000390941.1:n.*1431A>C
ENST00000450849.6:c.*1431A>C ENSP00000390941.1:n.*1431A>C
ENST00000600960.1:c.2611A>C ENSP00000470842.1:n.2611A>C
ENST00000601323.1:n.440-235A>C
NM_033064.4:c.*1431A>C NP_149053.1:n.*1431A>C
NM_033064.5:c.*1431A>C MANE Select NP_149053.1:n.*1431A>C