Canonical Allele Identifier: CA381702899

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437823A>T , CM000673.2:g.71437823A>T	GRCh38
NC_000011.9:g.71148869A>T , CM000673.1:g.71148869A>T	GRCh37
NC_000011.8:g.70826517A>T	NCBI36
NG_012655.2:g.15609T>A , LRG_340:g.15609T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.952T>A MANE Select	NP_001351.2:p.Tyr318Asn
ENST00000355527.8:c.952T>A MANE Select	ENSP00000347717.4:p.Tyr318Asn
NM_001163817.1:c.952T>A	NP_001157289.1:p.Tyr318Asn
NM_001163817.2:c.952T>A	NP_001157289.1:p.Tyr318Asn
NM_001360.2:c.952T>A , LRG_340t1:c.952T>A	NP_001351.2:p.Tyr318Asn
ENST00000355527.7:c.952T>A	ENSP00000347717.3:p.Tyr318Asn
ENST00000407721.6:c.952T>A	ENSP00000384739.2:p.Tyr318Asn
ENST00000525137.1:c.319T>A	ENSP00000435956.1:p.Tyr107Asn
ENST00000525346.6:c.952T>A	ENSP00000435707.3:p.Tyr318Asn
ENST00000526780.6:c.952T>A	ENSP00000435668.2:p.Tyr318Asn
ENST00000527316.6:c.778T>A	ENSP00000435047.2:p.Tyr260Asn
ENST00000533800.5:c.202T>A	ENSP00000435011.1:p.Tyr68Asn
ENST00000534795.5:c.308T>A
ENST00000682708.1:c.1003T>A	ENSP00000506866.1:p.Tyr335Asn
ENST00000682880.1:c.952T>A	ENSP00000507520.1:p.Tyr318Asn
ENST00000683287.1:c.988T>A	ENSP00000507607.1:p.Tyr330Asn
ENST00000683714.1:c.952T>A	ENSP00000508207.1:p.Tyr318Asn
ENST00000684396.1:n.992T>A
ENST00000685320.1:c.367T>A	ENSP00000509319.1:p.Tyr123Asn
ENST00000690257.1:c.856T>A	ENSP00000510750.1:p.Tyr286Asn
XM_011544777.1:c.952T>A	XP_011543079.1:p.Tyr318Asn
XM_011544777.2:c.952T>A	XP_011543079.1:p.Tyr318Asn