Canonical Allele Identifier: CA631525770
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs1218304823
gnomAD v2: 19-3925919-C-T
gnomAD v3: 19-3925921-C-T
gnomAD v4: 19-3925921-C-T
MyVariant Identifiers: chr19:g.3925919C>T (hg19) chr19:g.3925921C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3925921C>T , CM000681.2:g.3925921C>T GRCh38
NC_000019.9:g.3925919C>T , CM000681.1:g.3925919C>T GRCh37
NC_000019.8:g.3876919C>T NCBI36
NG_012638.1:g.50302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1329C>T MANE Select ENSP00000390941.1:n.*1329C>T
ENST00000450849.6:c.*1329C>T ENSP00000390941.1:n.*1329C>T
ENST00000600960.1:c.2509C>T ENSP00000470842.1:n.2509C>T
ENST00000601323.1:n.439+200C>T
NM_033064.4:c.*1329C>T NP_149053.1:n.*1329C>T
NM_033064.5:c.*1329C>T MANE Select NP_149053.1:n.*1329C>T
Search 100 bp 5'
Search 100 bp 3'