Canonical Allele Identifier: CA381694338

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441253G>T , CM000673.2:g.71441253G>T	GRCh38
NC_000011.9:g.71152299G>T , CM000673.1:g.71152299G>T	GRCh37
NC_000011.8:g.70829947G>T	NCBI36
NG_012655.2:g.12179C>A , LRG_340:g.12179C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.600C>A MANE Select	NP_001351.2:p.Tyr200Ter
ENST00000355527.8:c.600C>A MANE Select	ENSP00000347717.4:p.Tyr200Ter
NM_001163817.1:c.600C>A	NP_001157289.1:p.Tyr200Ter
NM_001163817.2:c.600C>A	NP_001157289.1:p.Tyr200Ter
NM_001360.2:c.600C>A , LRG_340t1:c.600C>A	NP_001351.2:p.Tyr200Ter
ENST00000355527.7:c.600C>A	ENSP00000347717.3:p.Tyr200Ter
ENST00000407721.6:c.600C>A	ENSP00000384739.2:p.Tyr200Ter
ENST00000525346.6:c.600C>A	ENSP00000435707.3:p.Tyr200Ter
ENST00000526780.6:c.600C>A	ENSP00000435668.2:p.Tyr200Ter
ENST00000527316.5:c.504C>A	ENSP00000435047.1:p.Tyr168Ter
ENST00000527316.6:c.426C>A	ENSP00000435047.2:p.Tyr142Ter
ENST00000534701.1:n.95C>A
ENST00000682708.1:c.600C>A	ENSP00000506866.1:p.Tyr200Ter
ENST00000682880.1:c.600C>A	ENSP00000507520.1:p.Tyr200Ter
ENST00000683287.1:c.636C>A	ENSP00000507607.1:p.Tyr212Ter
ENST00000683714.1:c.600C>A	ENSP00000508207.1:p.Tyr200Ter
ENST00000683874.1:n.877C>A
ENST00000685320.1:c.15C>A	ENSP00000509319.1:p.Tyr5Ter
ENST00000690257.1:c.504C>A	ENSP00000510750.1:p.Tyr168Ter
XM_011544777.1:c.600C>A	XP_011543079.1:p.Tyr200Ter
XM_011544777.2:c.600C>A	XP_011543079.1:p.Tyr200Ter