Canonical Allele Identifier: CA304405638
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs189915131
gnomAD v2: 19-3926046-G-A
gnomAD v3: 19-3926048-G-A
gnomAD v4: 19-3926048-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926048G>A , CM000681.2:g.3926048G>A GRCh38
NC_000019.9:g.3926046G>A , CM000681.1:g.3926046G>A GRCh37
NC_000019.8:g.3877046G>A NCBI36
NG_012638.1:g.50429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1456G>A MANE Select ENSP00000390941.1:n.*1456G>A
ENST00000450849.6:c.*1456G>A ENSP00000390941.1:n.*1456G>A
ENST00000600960.1:c.2636G>A ENSP00000470842.1:n.2636G>A
ENST00000601323.1:n.440-210G>A
NM_033064.4:c.*1456G>A NP_149053.1:n.*1456G>A
NM_033064.5:c.*1456G>A MANE Select NP_149053.1:n.*1456G>A