Canonical Allele Identifier: CA803778377

Gene:

Linked Data

• dbSNP Id: rs1191998220
• MyVariant Identifiers: chr5:g.128722545C>A (hg19) ; chr5:g.129386852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.129386852C>A , CM000667.2:g.129386852C>A	GRCh38
NC_000005.9:g.128722545C>A , CM000667.1:g.128722545C>A	GRCh37
NC_000005.8:g.128750444C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_427770.2:n.163-1596C>A
XR_948774.1:n.235-5799C>A
XR_001742463.1:n.4089-1596C>A
XR_001742464.1:n.2019-5799C>A
XR_001742465.1:n.401-1596C>A
XR_427770.3:n.337-1596C>A