Canonical Allele Identifier: CA2580602985
Community Standard Title: NC_000013.11:g.109599813G>C
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.109599813G>C , CM000675.2:g.109599813G>C GRCh38
NC_000013.10:g.110252160G>C , CM000675.1:g.110252160G>C GRCh37
NC_000013.9:g.109050161G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001750012.1:n.2787G>C
XR_001750013.1:n.2021G>C
XR_001750014.1:n.2839G>C
XR_001750015.1:n.2263G>C
XR_001750016.1:n.1345G>C
XR_931719.1:n.385+6396C>G
XR_931720.1:n.887+131130C>G
XR_931721.1:n.887+131130C>G