Canonical Allele Identifier: CA381702031
Gene: DHCR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435701A>C , CM000673.2:g.71435701A>C GRCh38
NC_000011.9:g.71146747A>C , CM000673.1:g.71146747A>C GRCh37
NC_000011.8:g.70824395A>C NCBI36
NG_012655.2:g.17731T>G , LRG_340:g.17731T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1102T>G ENSP00000435707.3:p.Cys368Gly
ENST00000526780.6:c.1102T>G ENSP00000435668.2:p.Cys368Gly
ENST00000527316.6:c.928T>G ENSP00000435047.2:p.Cys310Gly
ENST00000682708.1:c.1153T>G ENSP00000506866.1:p.Cys385Gly
ENST00000683287.1:c.1138T>G ENSP00000507607.1:p.Cys380Gly
ENST00000683714.1:c.1110T>G ENSP00000508207.1:p.Ala370=
ENST00000684396.1:n.1142T>G
ENST00000685320.1:c.517T>G ENSP00000509319.1:p.Cys173Gly
ENST00000690257.1:c.1006T>G ENSP00000510750.1:p.Cys336Gly
ENST00000355527.8:c.1102T>G MANE Select ENSP00000347717.4:p.Cys368Gly
ENST00000355527.7:c.1102T>G ENSP00000347717.3:p.Cys368Gly
ENST00000407721.6:c.1102T>G ENSP00000384739.2:p.Cys368Gly
ENST00000525137.1:c.603T>G ENSP00000435956.1:p.Ala201=
ENST00000533800.5:c.352T>G ENSP00000435011.1:p.Cys118Gly
ENST00000534795.5:c.319+2111T>G
NM_001163817.1:c.1102T>G NP_001157289.1:p.Cys368Gly
NM_001360.2:c.1102T>G , LRG_340t1:c.1102T>G NP_001351.2:p.Cys368Gly
XM_011544777.1:c.1236T>G XP_011543079.1:p.Ala412=
XM_011544777.2:c.1236T>G XP_011543079.1:p.Ala412=
NM_001163817.2:c.1102T>G NP_001157289.1:p.Cys368Gly
NM_001360.3:c.1102T>G MANE Select NP_001351.2:p.Cys368Gly