Canonical Allele Identifier: CA2584851432
Gene: ATCAY HGNC NCBI

Linked Data

gnomAD v4: 19-3926045-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926045C>T , CM000681.2:g.3926045C>T GRCh38
NC_000019.9:g.3926043C>T , CM000681.1:g.3926043C>T GRCh37
NC_000019.8:g.3877043C>T NCBI36
NG_012638.1:g.50426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1453C>T MANE Select ENSP00000390941.1:n.*1453C>T
ENST00000450849.6:c.*1453C>T ENSP00000390941.1:n.*1453C>T
ENST00000600960.1:c.2633C>T ENSP00000470842.1:n.2633C>T
ENST00000601323.1:n.440-213C>T
NM_033064.4:c.*1453C>T NP_149053.1:n.*1453C>T
NM_033064.5:c.*1453C>T MANE Select NP_149053.1:n.*1453C>T