Canonical Allele Identifier: CA2319122553
Gene: ATCAY HGNC NCBI

Linked Data

dbSNP Id: rs1469999612
gnomAD v4: 19-3926022-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3926022T>C , CM000681.2:g.3926022T>C GRCh38
NC_000019.9:g.3926020T>C , CM000681.1:g.3926020T>C GRCh37
NC_000019.8:g.3877020T>C NCBI36
NG_012638.1:g.50403T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450849.7:c.*1430T>C MANE Select ENSP00000390941.1:n.*1430T>C
ENST00000450849.6:c.*1430T>C ENSP00000390941.1:n.*1430T>C
ENST00000600960.1:c.2610T>C ENSP00000470842.1:n.2610T>C
ENST00000601323.1:n.440-236T>C
NM_033064.4:c.*1430T>C NP_149053.1:n.*1430T>C
NM_033064.5:c.*1430T>C MANE Select NP_149053.1:n.*1430T>C
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