Canonical Allele Identifier: CA908188488

Gene:

Linked Data

• dbSNP Id: rs1181716463
• MyVariant Identifiers: chr3:g.53091230A>G (hg19) ; chr3:g.53057214A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.53057214A>G , CM000665.2:g.53057214A>G	GRCh38
NC_000003.11:g.53091230A>G , CM000665.1:g.53091230A>G	GRCh37
NC_000003.10:g.53066270A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000607203.1:c.318-9975T>C
ENST00000607283.5:c.465-13960T>C
ENST00000607495.5:c.447+20474T>C