Canonical Allele Identifier: CA304405586
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs992198106
gnomAD v3: 19-3925936-G-C
gnomAD v4: 19-3925936-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3925936G>C , CM000681.2:g.3925936G>C GRCh38
NC_000019.9:g.3925934G>C , CM000681.1:g.3925934G>C GRCh37
NC_000019.8:g.3876934G>C NCBI36
NG_012638.1:g.50317G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1344G>C MANE Select ENSP00000390941.1:n.*1344G>C
ENST00000450849.6:c.*1344G>C ENSP00000390941.1:n.*1344G>C
ENST00000600960.1:c.2524G>C ENSP00000470842.1:n.2524G>C
ENST00000601323.1:n.439+215G>C
NM_033064.4:c.*1344G>C NP_149053.1:n.*1344G>C
NM_033064.5:c.*1344G>C MANE Select NP_149053.1:n.*1344G>C