Canonical Allele Identifier: CA6162413

Gene: DHCR7

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71437914G>T , CM000673.2:g.71437914G>T	GRCh38
NC_000011.9:g.71148960G>T , CM000673.1:g.71148960G>T	GRCh37
NC_000011.8:g.70826608G>T	NCBI36
NG_012655.2:g.15518C>A , LRG_340:g.15518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.861C>A	ENSP00000435707.3:p.Asn287Lys
ENST00000526780.6:c.861C>A	ENSP00000435668.2:p.Asn287Lys
ENST00000527316.6:c.687C>A	ENSP00000435047.2:p.Asn229Lys
ENST00000682708.1:c.912C>A	ENSP00000506866.1:p.Asn304Lys
ENST00000682880.1:c.861C>A	ENSP00000507520.1:p.Asn287Lys
ENST00000683287.1:c.897C>A	ENSP00000507607.1:p.Asn299Lys
ENST00000683714.1:c.861C>A	ENSP00000508207.1:p.Asn287Lys
ENST00000684396.1:n.901C>A
ENST00000685320.1:c.276C>A	ENSP00000509319.1:p.Asn92Lys
ENST00000690257.1:c.765C>A	ENSP00000510750.1:p.Asn255Lys
ENST00000355527.8:c.861C>A MANE Select	ENSP00000347717.4:p.Asn287Lys
ENST00000355527.7:c.861C>A	ENSP00000347717.3:p.Asn287Lys
ENST00000407721.6:c.861C>A	ENSP00000384739.2:p.Asn287Lys
ENST00000525137.1:c.228C>A	ENSP00000435956.1:p.Asn76Lys
ENST00000527316.5:c.765C>A	ENSP00000435047.1:p.Asn255Lys
ENST00000533800.5:c.111C>A	ENSP00000435011.1:p.Asn37Lys
ENST00000534795.5:c.217C>A
NM_001163817.1:c.861C>A	NP_001157289.1:p.Asn287Lys
NM_001360.2:c.861C>A , LRG_340t1:c.861C>A	NP_001351.2:p.Asn287Lys
XM_011544777.1:c.861C>A	XP_011543079.1:p.Asn287Lys
XM_011544777.2:c.861C>A	XP_011543079.1:p.Asn287Lys
NM_001163817.2:c.861C>A	NP_001157289.1:p.Asn287Lys
NM_001360.3:c.861C>A MANE Select	NP_001351.2:p.Asn287Lys