Canonical Allele Identifier: CA1981486890

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435576G= , CM000673.2:g.71435576G=	GRCh38
NC_000011.9:g.71146622G= , CM000673.1:g.71146622G=	GRCh37
NC_000011.8:g.70824270G=	NCBI36
NG_012655.2:g.17856C= , LRG_340:g.17856C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525346.6:c.1227C=	ENSP00000435707.3:p.Val409=
ENST00000526780.6:c.1227C=	ENSP00000435668.2:p.Val409=
ENST00000527316.6:c.1053C=	ENSP00000435047.2:p.Val351=
ENST00000682708.1:c.1278C=	ENSP00000506866.1:p.Val426=
ENST00000683287.1:c.1263C=	ENSP00000507607.1:p.Val421=
ENST00000683714.1:c.1235C=	ENSP00000508207.1:p.Ser412=
ENST00000684396.1:n.1267C=
ENST00000685320.1:c.642C=	ENSP00000509319.1:p.Val214=
ENST00000690257.1:c.1131C=	ENSP00000510750.1:p.Val377=
ENST00000355527.8:c.1227C= MANE Select	ENSP00000347717.4:p.Val409=
ENST00000355527.7:c.1227C=	ENSP00000347717.3:p.Val409=
ENST00000407721.6:c.1227C=	ENSP00000384739.2:p.Val409=
ENST00000525137.1:c.728C=	ENSP00000435956.1:p.Ser243=
ENST00000533800.5:c.477C=	ENSP00000435011.1:p.Val159=
ENST00000534795.5:c.319+2236C=
NM_001163817.1:c.1227C=	NP_001157289.1:p.Val409=
NM_001360.2:c.1227C= , LRG_340t1:c.1227C=	NP_001351.2:p.Val409=
XM_011544777.1:c.1361C=	XP_011543079.1:p.Ser454=
XM_011544777.2:c.1361C=	XP_011543079.1:p.Ser454=
NM_001163817.2:c.1227C=	NP_001157289.1:p.Val409=
NM_001360.3:c.1227C= MANE Select	NP_001351.2:p.Val409=