Canonical Allele Identifier: CA84794724
Gene: HLMR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.142930268C>T , CM000665.2:g.142930268C>T GRCh38
NC_000003.11:g.142649110C>T , CM000665.1:g.142649110C>T GRCh37
NC_000003.10:g.144131800C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_038455.1:n.223-2937C>T