Canonical Allele Identifier: CA13463638
Gene: DHCR7 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1790329

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71436837A>G , CM000673.2:g.71436837A>G GRCh38
NC_000011.9:g.71147883A>G , CM000673.1:g.71147883A>G GRCh37
NC_000011.8:g.70825531A>G NCBI36
NG_012655.2:g.16595T>C , LRG_340:g.16595T>C

Transcript Alleles

HGVS Amino-acid change
NM_001163817.1:c.963+975T>C VV NP_001157289.1:p.=
NM_001360.2:c.963+975T>C , LRG_340t1:c.963+975T>C NP_001351.2:p.=
XM_011544777.1:c.964-864T>C XP_011543079.1:p.=
XM_011544777.2:c.964-864T>C XP_011543079.1:p.=
ENST00000355527.7:c.963+975T>C ENSP00000347717.3:p.=
ENST00000407721.6:c.963+975T>C ENSP00000384739.2:p.=
ENST00000525137.1:n.331-864T>C ENSP00000435956.1:p.=
ENST00000533800.5:n.213+975T>C ENSP00000435011.1:p.=
ENST00000534795.5:n.319+975T>C