Canonical Allele Identifier: CA721212501

Gene:

Linked Data

• dbSNP Id: rs1403233388
• MyVariant Identifiers: chr16:g.49142571T>C (hg19) ; chr16:g.49108660T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.49108660T>C , CM000678.2:g.49108660T>C	GRCh38
NC_000016.9:g.49142571T>C , CM000678.1:g.49142571T>C	GRCh37
NC_000016.8:g.47700072T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_933517.1:n.810+1284A>G
XR_001752138.2:n.591+5316A>G
XR_933517.2:n.810+1284A>G