Canonical Allele Identifier: CA281184657

Gene:

Linked Data

• dbSNP Id: rs575985639
• gnomAD v3: 16-50109051-C-T
• gnomAD v4: 16-50109051-C-T
• MyVariant Identifiers: chr16:g.50142962C>T (hg19) ; chr16:g.50109051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50109051C>T , CM000678.2:g.50109051C>T	GRCh38
NC_000016.9:g.50142962C>T , CM000678.1:g.50142962C>T	GRCh37
NC_000016.8:g.48700463C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011523490.1:c.115-2399G>A	XP_011521792.1:n.115-2399G>A