Canonical Allele Identifier: CA121722120

Gene:

Linked Data

• dbSNP Id: rs889105168
• gnomAD v3: 5-79549959-T-A
• gnomAD v4: 5-79549959-T-A
• MyVariant Identifiers: chr5:g.78845782T>A (hg19) ; chr5:g.79549959T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549959T>A , CM000667.2:g.79549959T>A	GRCh38
NC_000005.9:g.78845782T>A , CM000667.1:g.78845782T>A	GRCh37
NC_000005.8:g.78881538T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948497.1:n.72+2315T>A
XR_948498.1:n.159+2122T>A
XR_948499.1:n.67+1657T>A
XR_948497.2:n.72+2315T>A
XR_948498.2:n.159+2122T>A
XR_948499.2:n.225+1657T>A