Canonical Allele Identifier: CA1981488023
Community Standard Title: NM_001360.3(DHCR7):c.907G= (p.Gly303=)
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71437868C= , CM000673.2:g.71437868C= GRCh38
NC_000011.9:g.71148914C= , CM000673.1:g.71148914C= GRCh37
NC_000011.8:g.70826562C= NCBI36
NG_012655.2:g.15564G= , LRG_340:g.15564G=

Transcript Alleles

HGVS Amino-acid Change
NM_001360.3:c.907G= MANE Select NP_001351.2:p.Gly303=
ENST00000355527.8:c.907G= MANE Select ENSP00000347717.4:p.Gly303=
NM_001163817.1:c.907G= NP_001157289.1:p.Gly303=
NM_001163817.2:c.907G= NP_001157289.1:p.Gly303=
NM_001360.2:c.907G= , LRG_340t1:c.907G= NP_001351.2:p.Gly303=
ENST00000355527.7:c.907G= ENSP00000347717.3:p.Gly303=
ENST00000407721.6:c.907G= ENSP00000384739.2:p.Gly303=
ENST00000525137.1:c.274G= ENSP00000435956.1:p.Gly92=
ENST00000525346.6:c.907G= ENSP00000435707.3:p.Gly303=
ENST00000526780.6:c.907G= ENSP00000435668.2:p.Gly303=
ENST00000527316.6:c.733G= ENSP00000435047.2:p.Gly245=
ENST00000533800.5:c.157G= ENSP00000435011.1:p.Gly53=
ENST00000534795.5:c.263G=
ENST00000682708.1:c.958G= ENSP00000506866.1:p.Gly320=
ENST00000682880.1:c.907G= ENSP00000507520.1:p.Gly303=
ENST00000683287.1:c.943G= ENSP00000507607.1:p.Gly315=
ENST00000683714.1:c.907G= ENSP00000508207.1:p.Gly303=
ENST00000684396.1:n.947G=
ENST00000685320.1:c.322G= ENSP00000509319.1:p.Gly108=
ENST00000690257.1:c.811G= ENSP00000510750.1:p.Gly271=
XM_011544777.1:c.907G= XP_011543079.1:p.Gly303=
XM_011544777.2:c.907G= XP_011543079.1:p.Gly303=