Canonical Allele Identifier: CA38294953
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.217936424T>C , CM000663.2:g.217936424T>C GRCh38
NC_000001.10:g.218109766T>C , CM000663.1:g.218109766T>C GRCh37
NC_000001.9:g.216176389T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_922602.1:n.232+5640A>G
XR_001738466.1:n.639+5640A>G