Canonical Allele Identifier: CA224322902
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs7690

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71434641T>G , CM000673.2:g.71434641T>G GRCh38
NC_000011.9:g.71145687T>G , CM000673.1:g.71145687T>G GRCh37
NC_000011.8:g.70823335T>G NCBI36
NG_012655.2:g.18791A>C , LRG_340:g.18791A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525346.6:c.*734A>C ENSP00000435707.3:n.*734A>C
ENST00000526780.6:c.*734A>C ENSP00000435668.2:n.*734A>C
ENST00000682708.1:c.*734A>C ENSP00000506866.1:n.*734A>C
ENST00000683287.1:c.*734A>C ENSP00000507607.1:n.*734A>C
ENST00000683714.1:c.*925A>C ENSP00000508207.1:n.*925A>C
ENST00000684396.1:n.2202A>C
ENST00000685320.1:c.*734A>C ENSP00000509319.1:n.*734A>C
ENST00000690257.1:c.*734A>C ENSP00000510750.1:n.*734A>C
ENST00000355527.8:c.*734A>C MANE Select ENSP00000347717.4:n.*734A>C
ENST00000355527.7:c.*734A>C ENSP00000347717.3:n.*734A>C
ENST00000407721.6:c.*734A>C ENSP00000384739.2:n.*734A>C
ENST00000534795.5:c.319+3171A>C
NM_001163817.1:c.*734A>C NP_001157289.1:n.*734A>C
NM_001360.2:c.*734A>C , LRG_340t1:c.*734A>C NP_001351.2:n.*734A>C
XM_011544777.1:c.*925A>C XP_011543079.1:n.*925A>C
XM_011544777.2:c.*925A>C XP_011543079.1:n.*925A>C
NM_001163817.2:c.*734A>C NP_001157289.1:n.*734A>C
NM_001360.3:c.*734A>C MANE Select NP_001351.2:n.*734A>C