Canonical Allele Identifier: CA15718654
Gene: DHCR7 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71431304T>C , CM000673.2:g.71431304T>C GRCh38
NC_000011.9:g.71142350T>C , CM000673.1:g.71142350T>C GRCh37
NC_000011.8:g.70819998T>C NCBI36
NG_012655.2:g.22128A>G , LRG_340:g.22128A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000534795.5:c.320-2452A>G
Search 100 bp 5'
Search 100 bp 3'