Canonical Allele Identifier: CA304405635
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs899547902
gnomAD v3: 19-3926043-T-G
gnomAD v4: 19-3926043-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926043T>G , CM000681.2:g.3926043T>G GRCh38
NC_000019.9:g.3926041T>G , CM000681.1:g.3926041T>G GRCh37
NC_000019.8:g.3877041T>G NCBI36
NG_012638.1:g.50424T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000450849.7:c.*1451T>G MANE Select ENSP00000390941.1:n.*1451T>G
ENST00000450849.6:c.*1451T>G ENSP00000390941.1:n.*1451T>G
ENST00000600960.1:c.2631T>G ENSP00000470842.1:n.2631T>G
ENST00000601323.1:n.440-215T>G
NM_033064.4:c.*1451T>G NP_149053.1:n.*1451T>G
NM_033064.5:c.*1451T>G MANE Select NP_149053.1:n.*1451T>G