Canonical Allele Identifier: CA721212472

Gene:

Linked Data

• dbSNP Id: rs1427031806
• MyVariant Identifiers: chr16:g.49142495A>G (hg19) ; chr16:g.49108584A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108584A>G , CM000678.2:g.49108584A>G	GRCh38
NC_000016.9:g.49142495A>G , CM000678.1:g.49142495A>G	GRCh37
NC_000016.8:g.47699996A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1360T>C
XR_001752138.2:n.591+5392T>C
XR_933517.2:n.810+1360T>C