Canonical Allele Identifier: CA121722104

Gene:

Linked Data

• dbSNP Id: rs548112083
• gnomAD v3: 5-79549833-G-A
• gnomAD v4: 5-79549833-G-A
• MyVariant Identifiers: chr5:g.78845656G>A (hg19) ; chr5:g.79549833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549833G>A , CM000667.2:g.79549833G>A	GRCh38
NC_000005.9:g.78845656G>A , CM000667.1:g.78845656G>A	GRCh37
NC_000005.8:g.78881412G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2189G>A
XR_948498.1:n.159+1996G>A
XR_948499.1:n.67+1531G>A
XR_948497.2:n.72+2189G>A
XR_948498.2:n.159+1996G>A
XR_948499.2:n.225+1531G>A