Canonical Allele Identifier: CA2584851431
Gene: ATCAY HGNC NCBI

Linked Data

gnomAD v4: 19-3926044-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926044G>T , CM000681.2:g.3926044G>T GRCh38
NC_000019.9:g.3926042G>T , CM000681.1:g.3926042G>T GRCh37
NC_000019.8:g.3877042G>T NCBI36
NG_012638.1:g.50425G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1452G>T MANE Select ENSP00000390941.1:n.*1452G>T
ENST00000450849.6:c.*1452G>T ENSP00000390941.1:n.*1452G>T
ENST00000600960.1:c.2632G>T ENSP00000470842.1:n.2632G>T
ENST00000601323.1:n.440-214G>T
NM_033064.4:c.*1452G>T NP_149053.1:n.*1452G>T
NM_033064.5:c.*1452G>T MANE Select NP_149053.1:n.*1452G>T