Canonical Allele Identifier: CA381700486

Gene: DHCR7

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71435404G>A , CM000673.2:g.71435404G>A	GRCh38
NC_000011.9:g.71146450G>A , CM000673.1:g.71146450G>A	GRCh37
NC_000011.8:g.70824098G>A	NCBI36
NG_012655.2:g.18028C>T , LRG_340:g.18028C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001360.3:c.1399C>T MANE Select	NP_001351.2:p.Pro467Ser
ENST00000355527.8:c.1399C>T MANE Select	ENSP00000347717.4:p.Pro467Ser
NM_001163817.1:c.1399C>T	NP_001157289.1:p.Pro467Ser
NM_001163817.2:c.1399C>T	NP_001157289.1:p.Pro467Ser
NM_001360.2:c.1399C>T , LRG_340t1:c.1399C>T	NP_001351.2:p.Pro467Ser
ENST00000355527.7:c.1399C>T	ENSP00000347717.3:p.Pro467Ser
ENST00000407721.6:c.1399C>T	ENSP00000384739.2:p.Pro467Ser
ENST00000525137.1:c.900C>T	ENSP00000435956.1:n.900C>T
ENST00000525346.6:c.1399C>T	ENSP00000435707.3:p.Pro467Ser
ENST00000526780.6:c.1399C>T	ENSP00000435668.2:p.Pro467Ser
ENST00000527316.6:c.1225C>T	ENSP00000435047.2:p.Pro409Ser
ENST00000533800.5:c.611+38C>T	ENSP00000435011.1:n.611+38C>T
ENST00000534795.5:c.319+2408C>T
ENST00000682708.1:c.1450C>T	ENSP00000506866.1:p.Pro484Ser
ENST00000683287.1:c.1435C>T	ENSP00000507607.1:p.Pro479Ser
ENST00000683714.1:c.*162C>T	ENSP00000508207.1:n.*162C>T
ENST00000684396.1:n.1439C>T
ENST00000685320.1:c.814C>T	ENSP00000509319.1:p.Pro272Ser
ENST00000690257.1:c.1303C>T	ENSP00000510750.1:p.Pro435Ser
XM_011544777.1:c.*162C>T	XP_011543079.1:n.*162C>T
XM_011544777.2:c.*162C>T	XP_011543079.1:n.*162C>T