Canonical Allele Identifier: CA814334994

Gene:

Linked Data

• dbSNP Id: rs977027560
• MyVariant Identifiers: chr5:g.78845671G>A (hg19) ; chr5:g.79549848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549848G>A , CM000667.2:g.79549848G>A	GRCh38
NC_000005.9:g.78845671G>A , CM000667.1:g.78845671G>A	GRCh37
NC_000005.8:g.78881427G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2204G>A
XR_948498.1:n.159+2011G>A
XR_948499.1:n.67+1546G>A
XR_948497.2:n.72+2204G>A
XR_948498.2:n.159+2011G>A
XR_948499.2:n.225+1546G>A