Canonical Allele Identifier: CA381694698

Gene: DHCR7

Linked Data

• MyVariant Identifiers: chr11:g.71152471T>A (hg19) ; chr11:g.71441425T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71441425T>A , CM000673.2:g.71441425T>A	GRCh38
NC_000011.9:g.71152471T>A , CM000673.1:g.71152471T>A	GRCh37
NC_000011.8:g.70830119T>A	NCBI36
NG_012655.2:g.12007A>T , LRG_340:g.12007A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.428A>T	ENSP00000435707.3:p.Tyr143Phe
ENST00000526780.6:c.428A>T	ENSP00000435668.2:p.Tyr143Phe
ENST00000527316.6:c.254A>T	ENSP00000435047.2:p.Tyr85Phe
ENST00000682708.1:c.428A>T	ENSP00000506866.1:p.Tyr143Phe
ENST00000682880.1:c.428A>T	ENSP00000507520.1:p.Tyr143Phe
ENST00000683287.1:c.464A>T	ENSP00000507607.1:p.Tyr155Phe
ENST00000683714.1:c.428A>T	ENSP00000508207.1:p.Tyr143Phe
ENST00000683874.1:n.705A>T
ENST00000685320.1:c.-158A>T	ENSP00000509319.1:n.-158A>T
ENST00000690257.1:c.332A>T	ENSP00000510750.1:p.Tyr111Phe
ENST00000355527.8:c.428A>T MANE Select	ENSP00000347717.4:p.Tyr143Phe
ENST00000355527.7:c.428A>T	ENSP00000347717.3:p.Tyr143Phe
ENST00000407721.6:c.428A>T	ENSP00000384739.2:p.Tyr143Phe
ENST00000526780.5:c.428A>T	ENSP00000435668.1:p.Tyr143Phe
ENST00000527316.5:c.332A>T	ENSP00000435047.1:p.Tyr111Phe
NM_001163817.1:c.428A>T	NP_001157289.1:p.Tyr143Phe
NM_001360.2:c.428A>T , LRG_340t1:c.428A>T	NP_001351.2:p.Tyr143Phe
XM_011544777.1:c.428A>T	XP_011543079.1:p.Tyr143Phe
XM_011544777.2:c.428A>T	XP_011543079.1:p.Tyr143Phe
NM_001163817.2:c.428A>T	NP_001157289.1:p.Tyr143Phe
NM_001360.3:c.428A>T MANE Select	NP_001351.2:p.Tyr143Phe