Canonical Allele Identifier: CA1981489735
Community Standard Title: NM_001360.3(DHCR7):c.506C= (p.Ser169=)
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71441347G= , CM000673.2:g.71441347G= GRCh38
NC_000011.9:g.71152393G= , CM000673.1:g.71152393G= GRCh37
NC_000011.8:g.70830041G= NCBI36
NG_012655.2:g.12085C= , LRG_340:g.12085C=

Transcript Alleles

HGVS Amino-acid Change
NM_001360.3:c.506C= MANE Select NP_001351.2:p.Ser169=
ENST00000355527.8:c.506C= MANE Select ENSP00000347717.4:p.Ser169=
NM_001163817.1:c.506C= NP_001157289.1:p.Ser169=
NM_001163817.2:c.506C= NP_001157289.1:p.Ser169=
NM_001360.2:c.506C= , LRG_340t1:c.506C= NP_001351.2:p.Ser169=
ENST00000355527.7:c.506C= ENSP00000347717.3:p.Ser169=
ENST00000407721.6:c.506C= ENSP00000384739.2:p.Ser169=
ENST00000525346.6:c.506C= ENSP00000435707.3:p.Ser169=
ENST00000526780.6:c.506C= ENSP00000435668.2:p.Ser169=
ENST00000527316.5:c.410C= ENSP00000435047.1:p.Ser137=
ENST00000527316.6:c.332C= ENSP00000435047.2:p.Ser111=
ENST00000534701.1:n.1C=
ENST00000682708.1:c.506C= ENSP00000506866.1:p.Ser169=
ENST00000682880.1:c.506C= ENSP00000507520.1:p.Ser169=
ENST00000683287.1:c.542C= ENSP00000507607.1:p.Ser181=
ENST00000683714.1:c.506C= ENSP00000508207.1:p.Ser169=
ENST00000683874.1:n.783C=
ENST00000685320.1:c.-80C= ENSP00000509319.1:n.-80C=
ENST00000690257.1:c.410C= ENSP00000510750.1:p.Ser137=
XM_011544777.1:c.506C= XP_011543079.1:p.Ser169=
XM_011544777.2:c.506C= XP_011543079.1:p.Ser169=