Canonical Allele Identifier: CA2724530152
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs2135937186

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431277G>C , CM000673.2:g.71431277G>C GRCh38
NC_000011.9:g.71142323G>C , CM000673.1:g.71142323G>C GRCh37
NC_000011.8:g.70819971G>C NCBI36
NG_012655.2:g.22155C>G , LRG_340:g.22155C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000534795.5:c.320-2425C>G