Canonical Allele Identifier: CA13397957
Gene:

Linked Data

dbSNP Id: rs1426391

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116072535A>C , CM000673.2:g.116072535A>C GRCh38
NC_000011.9:g.115943253A>C , CM000673.1:g.115943253A>C GRCh37
NC_000011.8:g.115448463A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948055.1:n.192+479T>G
XR_948056.1:n.311-5330T>G
XR_948057.1:n.97+574T>G
XR_001748401.1:n.192+479T>G
XR_948055.2:n.192+479T>G
XR_948056.2:n.314-5330T>G
XR_948057.2:n.97+574T>G