Canonical Allele Identifier: CA814334991

Gene:

Linked Data

• dbSNP Id: rs1252033910
• MyVariant Identifiers: chr5:g.78845655G>A (hg19) ; chr5:g.79549832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549832G>A , CM000667.2:g.79549832G>A	GRCh38
NC_000005.9:g.78845655G>A , CM000667.1:g.78845655G>A	GRCh37
NC_000005.8:g.78881411G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948497.1:n.72+2188G>A
XR_948498.1:n.159+1995G>A
XR_948499.1:n.67+1530G>A
XR_948497.2:n.72+2188G>A
XR_948498.2:n.159+1995G>A
XR_948499.2:n.225+1530G>A