Canonical Allele Identifier: CA1981488590
Community Standard Title: NM_001360.3(DHCR7):c.725G= (p.Arg242=)
Gene: DHCR7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71438985C= , CM000673.2:g.71438985C= GRCh38
NC_000011.9:g.71150031C= , CM000673.1:g.71150031C= GRCh37
NC_000011.8:g.70827679C= NCBI36
NG_012655.2:g.14447G= , LRG_340:g.14447G=

Transcript Alleles

HGVS Amino-acid Change
NM_001360.3:c.725G= MANE Select NP_001351.2:p.Arg242=
ENST00000355527.8:c.725G= MANE Select ENSP00000347717.4:p.Arg242=
NM_001163817.1:c.725G= NP_001157289.1:p.Arg242=
NM_001163817.2:c.725G= NP_001157289.1:p.Arg242=
NM_001360.2:c.725G= , LRG_340t1:c.725G= NP_001351.2:p.Arg242=
ENST00000355527.7:c.725G= ENSP00000347717.3:p.Arg242=
ENST00000407721.6:c.725G= ENSP00000384739.2:p.Arg242=
ENST00000525137.1:c.92G= ENSP00000435956.1:p.Arg31=
ENST00000525346.6:c.725G= ENSP00000435707.3:p.Arg242=
ENST00000526780.6:c.725G= ENSP00000435668.2:p.Arg242=
ENST00000527316.5:c.629G= ENSP00000435047.1:p.Arg210=
ENST00000527316.6:c.551G= ENSP00000435047.2:p.Arg184=
ENST00000534701.1:n.220G=
ENST00000534795.5:c.81G=
ENST00000682708.1:c.776G= ENSP00000506866.1:p.Arg259=
ENST00000682880.1:c.725G= ENSP00000507520.1:p.Arg242=
ENST00000683287.1:c.761G= ENSP00000507607.1:p.Arg254=
ENST00000683714.1:c.725G= ENSP00000508207.1:p.Arg242=
ENST00000684396.1:n.765G=
ENST00000685320.1:c.140G= ENSP00000509319.1:p.Arg47=
ENST00000690257.1:c.629G= ENSP00000510750.1:p.Arg210=
XM_011544777.1:c.725G= XP_011543079.1:p.Arg242=
XM_011544777.2:c.725G= XP_011543079.1:p.Arg242=