Canonical Allele Identifier: CA304405631
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs557268363
gnomAD v3: 19-3926033-C-T
gnomAD v4: 19-3926033-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926033C>T , CM000681.2:g.3926033C>T GRCh38
NC_000019.9:g.3926031C>T , CM000681.1:g.3926031C>T GRCh37
NC_000019.8:g.3877031C>T NCBI36
NG_012638.1:g.50414C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1441C>T MANE Select ENSP00000390941.1:n.*1441C>T
ENST00000450849.6:c.*1441C>T ENSP00000390941.1:n.*1441C>T
ENST00000600960.1:c.2621C>T ENSP00000470842.1:n.2621C>T
ENST00000601323.1:n.440-225C>T
NM_033064.4:c.*1441C>T NP_149053.1:n.*1441C>T
NM_033064.5:c.*1441C>T MANE Select NP_149053.1:n.*1441C>T