Canonical Allele Identifier: CA147245
Gene: DHCR7 HGNC NCBI

Linked Data

ClinVar Variation Id: 93716
dbSNP Id: rs4316537

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444083G>A , CM000673.2:g.71444083G>A GRCh38
NC_000011.9:g.71155129G>A , CM000673.1:g.71155129G>A GRCh37
NC_000011.8:g.70832777G>A NCBI36
NG_012655.2:g.9349C>T , LRG_340:g.9349C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355527.8:c.231C>T MANE Select ENSP00000347717.4:p.Thr77=
ENST00000355527.7:c.231C>T ENSP00000347717.3:p.Thr77=
ENST00000407721.6:c.231C>T ENSP00000384739.2:p.Thr77=
ENST00000525346.5:c.231C>T ENSP00000435707.2:p.Thr77=
ENST00000526780.5:c.231C>T ENSP00000435668.1:p.Thr77=
ENST00000527316.5:c.135C>T ENSP00000435047.1:p.Thr45=
ENST00000527452.1:c.231C>T ENSP00000436007.1:p.Thr77=
ENST00000529990.5:c.171C>T ENSP00000435058.1:p.Thr57=
ENST00000531364.5:c.231C>T ENSP00000432589.1:p.Thr77=
NM_001163817.1:c.231C>T NP_001157289.1:p.Thr77=
NM_001360.2:c.231C>T , LRG_340t1:c.231C>T NP_001351.2:p.Thr77=
XM_011544777.1:c.231C>T XP_011543079.1:p.Thr77=
XM_011544777.2:c.231C>T XP_011543079.1:p.Thr77=
NM_001163817.2:c.231C>T NP_001157289.1:p.Thr77=
NM_001360.3:c.231C>T MANE Select NP_001351.2:p.Thr77=