Canonical Allele Identifier: CA475520781
Gene: DHCR7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.71155903G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444857G>C , CM000673.2:g.71444857G>C GRCh38
NC_000011.9:g.71155903G>C , CM000673.1:g.71155903G>C GRCh37
NC_000011.8:g.70833551G>C NCBI36
NG_012655.2:g.8575C>G , LRG_340:g.8575C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.96C>G ENSP00000435707.3:p.Ala32=
ENST00000526780.6:c.96C>G ENSP00000435668.2:p.Ala32=
ENST00000527316.6:c.-150C>G ENSP00000435047.2:n.-150C>G
ENST00000529990.6:c.-117C>G ENSP00000435058.2:n.-117C>G
ENST00000682708.1:c.96C>G ENSP00000506866.1:p.Ala32=
ENST00000682880.1:c.96C>G ENSP00000507520.1:p.Ala32=
ENST00000683287.1:c.96C>G ENSP00000507607.1:p.Ala32=
ENST00000683714.1:c.96C>G ENSP00000508207.1:p.Ala32=
ENST00000683874.1:n.373C>G
ENST00000685320.1:c.-333-796C>G ENSP00000509319.1:n.-333-796C>G
ENST00000690257.1:c.96C>G ENSP00000510750.1:p.Ala32=
ENST00000355527.8:c.96C>G MANE Select ENSP00000347717.4:p.Ala32=
ENST00000355527.7:c.96C>G ENSP00000347717.3:p.Ala32=
ENST00000407721.6:c.96C>G ENSP00000384739.2:p.Ala32=
ENST00000525346.5:c.96C>G ENSP00000435707.2:p.Ala32=
ENST00000526780.5:c.96C>G ENSP00000435668.1:p.Ala32=
ENST00000527316.5:c.96C>G ENSP00000435047.1:p.Ala32=
ENST00000527452.1:c.96C>G ENSP00000436007.1:p.Ala32=
ENST00000529990.5:c.-3C>G ENSP00000435058.1:n.-3C>G
ENST00000531364.5:c.96C>G ENSP00000432589.1:p.Ala32=
NM_001163817.1:c.96C>G NP_001157289.1:p.Ala32=
NM_001360.2:c.96C>G , LRG_340t1:c.96C>G NP_001351.2:p.Ala32=
XM_011544777.1:c.96C>G XP_011543079.1:p.Ala32=
XM_011544777.2:c.96C>G XP_011543079.1:p.Ala32=
NM_001163817.2:c.96C>G NP_001157289.1:p.Ala32=
NM_001360.3:c.96C>G MANE Select NP_001351.2:p.Ala32=