Canonical Allele Identifier: CA381703447

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71439006A>G , CM000673.2:g.71439006A>G	GRCh38
NC_000011.9:g.71150052A>G , CM000673.1:g.71150052A>G	GRCh37
NC_000011.8:g.70827700A>G	NCBI36
NG_012655.2:g.14426T>C , LRG_340:g.14426T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.704T>C MANE Select	NP_001351.2:p.Phe235Ser
ENST00000355527.8:c.704T>C MANE Select	ENSP00000347717.4:p.Phe235Ser
NM_001163817.1:c.704T>C	NP_001157289.1:p.Phe235Ser
NM_001163817.2:c.704T>C	NP_001157289.1:p.Phe235Ser
NM_001360.2:c.704T>C , LRG_340t1:c.704T>C	NP_001351.2:p.Phe235Ser
ENST00000355527.7:c.704T>C	ENSP00000347717.3:p.Phe235Ser
ENST00000407721.6:c.704T>C	ENSP00000384739.2:p.Phe235Ser
ENST00000525137.1:c.71T>C	ENSP00000435956.1:p.Phe24Ser
ENST00000525346.6:c.704T>C	ENSP00000435707.3:p.Phe235Ser
ENST00000526780.6:c.704T>C	ENSP00000435668.2:p.Phe235Ser
ENST00000527316.5:c.608T>C	ENSP00000435047.1:p.Phe203Ser
ENST00000527316.6:c.530T>C	ENSP00000435047.2:p.Phe177Ser
ENST00000534701.1:n.199T>C
ENST00000534795.5:c.60T>C
ENST00000682708.1:c.755T>C	ENSP00000506866.1:p.Phe252Ser
ENST00000682880.1:c.704T>C	ENSP00000507520.1:p.Phe235Ser
ENST00000683287.1:c.740T>C	ENSP00000507607.1:p.Phe247Ser
ENST00000683714.1:c.704T>C	ENSP00000508207.1:p.Phe235Ser
ENST00000684396.1:n.744T>C
ENST00000685320.1:c.119T>C	ENSP00000509319.1:p.Phe40Ser
ENST00000690257.1:c.608T>C	ENSP00000510750.1:p.Phe203Ser
XM_011544777.1:c.704T>C	XP_011543079.1:p.Phe235Ser
XM_011544777.2:c.704T>C	XP_011543079.1:p.Phe235Ser