Canonical Allele Identifier: CA261374876

Gene:

Linked Data

• dbSNP Id: rs565504900
• gnomAD v3: 14-52417551-C-T
• gnomAD v4: 14-52417551-C-T
• MyVariant Identifiers: chr14:g.52884269C>T (hg19) ; chr14:g.52417551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.52417551C>T , CM000676.2:g.52417551C>T	GRCh38
NC_000014.8:g.52884269C>T , CM000676.1:g.52884269C>T	GRCh37
NC_000014.7:g.51954019C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_943866.1:n.3152G>A