Canonical Allele Identifier: CA6162643
Gene: DHCR7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 553296
ClinVar RCV Id: RCV000668709
dbSNP Id: rs104886041

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444018A>G , CM000673.2:g.71444018A>G GRCh38
NC_000011.9:g.71155064A>G , CM000673.1:g.71155064A>G GRCh37
NC_000011.8:g.70832712A>G NCBI36
NG_012655.2:g.9414T>C , LRG_340:g.9414T>C

Transcript Alleles

HGVS Amino-acid change
NM_001163817.1:c.296T>C VV NP_001157289.1:p.Leu99Pro
NM_001360.2:c.296T>C , LRG_340t1:c.296T>C NP_001351.2:p.Leu99Pro
XM_011544777.1:c.296T>C XP_011543079.1:p.Leu99Pro
XM_011544777.2:c.296T>C XP_011543079.1:p.Leu99Pro
ENST00000355527.7:c.296T>C ENSP00000347717.3:p.Leu99Pro
ENST00000407721.6:c.296T>C ENSP00000384739.2:p.Leu99Pro
ENST00000525346.5:c.296T>C ENSP00000435707.2:p.Leu99Pro
ENST00000526780.5:c.296T>C ENSP00000435668.1:p.Leu99Pro
ENST00000527316.5:c.200T>C ENSP00000435047.1:p.Leu67Pro
ENST00000531364.5:c.296T>C ENSP00000432589.1:p.Leu99Pro