Canonical Allele Identifier: CA381700395
Gene: DHCR7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71435380A>G , CM000673.2:g.71435380A>G GRCh38
NC_000011.9:g.71146426A>G , CM000673.1:g.71146426A>G GRCh37
NC_000011.8:g.70824074A>G NCBI36
NG_012655.2:g.18052T>C , LRG_340:g.18052T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.1423T>C ENSP00000435707.3:p.Phe475Leu
ENST00000526780.6:c.1423T>C ENSP00000435668.2:p.Phe475Leu
ENST00000527316.6:c.1249T>C ENSP00000435047.2:p.Phe417Leu
ENST00000682708.1:c.1474T>C ENSP00000506866.1:p.Phe492Leu
ENST00000683287.1:c.1459T>C ENSP00000507607.1:p.Phe487Leu
ENST00000683714.1:c.*186T>C ENSP00000508207.1:n.*186T>C
ENST00000684396.1:n.1463T>C
ENST00000685320.1:c.838T>C ENSP00000509319.1:p.Phe280Leu
ENST00000690257.1:c.1327T>C ENSP00000510750.1:p.Phe443Leu
ENST00000355527.8:c.1423T>C MANE Select ENSP00000347717.4:p.Phe475Leu
ENST00000355527.7:c.1423T>C ENSP00000347717.3:p.Phe475Leu
ENST00000407721.6:c.1423T>C ENSP00000384739.2:p.Phe475Leu
ENST00000525137.1:c.924T>C ENSP00000435956.1:n.924T>C
ENST00000533800.5:c.611+62T>C ENSP00000435011.1:n.611+62T>C
ENST00000534795.5:c.319+2432T>C
NM_001163817.1:c.1423T>C NP_001157289.1:p.Phe475Leu
NM_001360.2:c.1423T>C , LRG_340t1:c.1423T>C NP_001351.2:p.Phe475Leu
XM_011544777.1:c.*186T>C XP_011543079.1:n.*186T>C
XM_011544777.2:c.*186T>C XP_011543079.1:n.*186T>C
NM_001163817.2:c.1423T>C NP_001157289.1:p.Phe475Leu
NM_001360.3:c.1423T>C MANE Select NP_001351.2:p.Phe475Leu