Canonical Allele Identifier: CA304405592
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs1044180006
gnomAD v2: 19-3925947-G-A
gnomAD v3: 19-3925949-G-A
gnomAD v4: 19-3925949-G-A
MyVariant Identifiers: chr19:g.3925947G>A (hg19) chr19:g.3925949G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3925949G>A , CM000681.2:g.3925949G>A GRCh38
NC_000019.9:g.3925947G>A , CM000681.1:g.3925947G>A GRCh37
NC_000019.8:g.3876947G>A NCBI36
NG_012638.1:g.50330G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450849.7:c.*1357G>A MANE Select ENSP00000390941.1:n.*1357G>A
ENST00000450849.6:c.*1357G>A ENSP00000390941.1:n.*1357G>A
ENST00000600960.1:c.2537G>A ENSP00000470842.1:n.2537G>A
ENST00000601323.1:n.439+228G>A
NM_033064.4:c.*1357G>A NP_149053.1:n.*1357G>A
NM_033064.5:c.*1357G>A MANE Select NP_149053.1:n.*1357G>A
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