Canonical Allele Identifier: CA1981491008
Community Standard Title: NM_001360.3(DHCR7):c.321G= (p.Gln107=)
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71443993C= , CM000673.2:g.71443993C= GRCh38
NC_000011.9:g.71155039C= , CM000673.1:g.71155039C= GRCh37
NC_000011.8:g.70832687C= NCBI36
NG_012655.2:g.9439G= , LRG_340:g.9439G=

Transcript Alleles

HGVS Amino-acid Change
NM_001360.3:c.321G= MANE Select NP_001351.2:p.Gln107=
ENST00000355527.8:c.321G= MANE Select ENSP00000347717.4:p.Gln107=
NM_001163817.1:c.321G= NP_001157289.1:p.Gln107=
NM_001163817.2:c.321G= NP_001157289.1:p.Gln107=
NM_001360.2:c.321G= , LRG_340t1:c.321G= NP_001351.2:p.Gln107=
ENST00000355527.7:c.321G= ENSP00000347717.3:p.Gln107=
ENST00000407721.6:c.321G= ENSP00000384739.2:p.Gln107=
ENST00000525346.5:c.321G= ENSP00000435707.2:p.Gln107=
ENST00000525346.6:c.321G= ENSP00000435707.3:p.Gln107=
ENST00000526780.5:c.321G= ENSP00000435668.1:p.Gln107=
ENST00000526780.6:c.321G= ENSP00000435668.2:p.Gln107=
ENST00000527316.5:c.225G= ENSP00000435047.1:p.Gln75=
ENST00000527316.6:c.147G= ENSP00000435047.2:p.Gln49=
ENST00000682708.1:c.321G= ENSP00000506866.1:p.Gln107=
ENST00000682880.1:c.321G= ENSP00000507520.1:p.Gln107=
ENST00000683287.1:c.321G= ENSP00000507607.1:p.Gln107=
ENST00000683714.1:c.321G= ENSP00000508207.1:p.Gln107=
ENST00000683874.1:n.598G=
ENST00000685320.1:c.-265G= ENSP00000509319.1:n.-265G=
ENST00000690257.1:c.225G= ENSP00000510750.1:p.Gln75=
XM_011544777.1:c.321G= XP_011543079.1:p.Gln107=
XM_011544777.2:c.321G= XP_011543079.1:p.Gln107=