Canonical Allele Identifier: CA2353246796
Community Standard Title: NC_000020.11:g.17844499T>G
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.17844499T>G , CM000682.2:g.17844499T>G GRCh38
NC_000020.10:g.17825143T>G , CM000682.1:g.17825143T>G GRCh37
NC_000020.9:g.17773143T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001754511.1:n.294+5666A>C