Canonical Allele Identifier: CA1077893089
Gene:

Linked Data

gnomAD v3: 5-79549979-G-A
gnomAD v4: 5-79549979-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.79549979G>A , CM000667.2:g.79549979G>A GRCh38
NC_000005.9:g.78845802G>A , CM000667.1:g.78845802G>A GRCh37
NC_000005.8:g.78881558G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948497.1:n.72+2335G>A
XR_948498.1:n.159+2142G>A
XR_948499.1:n.67+1677G>A
XR_948497.2:n.72+2335G>A
XR_948498.2:n.159+2142G>A
XR_948499.2:n.225+1677G>A
Search 100 bp 5'
Search 100 bp 3'