Canonical Allele Identifier: CA224280858
Gene: DHCR7 HGNC NCBI

Linked Data

dbSNP Id: rs104886038
gnomAD v4: 11-71444111-A-G
MyVariant Identifiers: chr11:g.71155157A>G (hg19) chr11:g.71444111A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.71444111A>G , CM000673.2:g.71444111A>G GRCh38
NC_000011.9:g.71155157A>G , CM000673.1:g.71155157A>G GRCh37
NC_000011.8:g.70832805A>G NCBI36
NG_012655.2:g.9321T>C , LRG_340:g.9321T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000525346.6:c.203T>C ENSP00000435707.3:p.Leu68Pro
ENST00000526780.6:c.203T>C ENSP00000435668.2:p.Leu68Pro
ENST00000527316.6:c.29T>C ENSP00000435047.2:p.Leu10Pro
ENST00000529990.6:c.29T>C ENSP00000435058.2:p.Leu10Pro
ENST00000682708.1:c.203T>C ENSP00000506866.1:p.Leu68Pro
ENST00000682880.1:c.203T>C ENSP00000507520.1:p.Leu68Pro
ENST00000683287.1:c.203T>C ENSP00000507607.1:p.Leu68Pro
ENST00000683714.1:c.203T>C ENSP00000508207.1:p.Leu68Pro
ENST00000683874.1:n.480T>C
ENST00000685320.1:c.-333-50T>C ENSP00000509319.1:n.-333-50T>C
ENST00000690257.1:c.107T>C ENSP00000510750.1:p.Leu36Pro
ENST00000355527.8:c.203T>C MANE Select ENSP00000347717.4:p.Leu68Pro
ENST00000355527.7:c.203T>C ENSP00000347717.3:p.Leu68Pro
ENST00000407721.6:c.203T>C ENSP00000384739.2:p.Leu68Pro
ENST00000525346.5:c.203T>C ENSP00000435707.2:p.Leu68Pro
ENST00000526780.5:c.203T>C ENSP00000435668.1:p.Leu68Pro
ENST00000527316.5:c.107T>C ENSP00000435047.1:p.Leu36Pro
ENST00000527452.1:c.203T>C ENSP00000436007.1:p.Leu68Pro
ENST00000529990.5:c.143T>C ENSP00000435058.1:p.Leu48Pro
ENST00000531364.5:c.203T>C ENSP00000432589.1:p.Leu68Pro
NM_001163817.1:c.203T>C NP_001157289.1:p.Leu68Pro
NM_001360.2:c.203T>C , LRG_340t1:c.203T>C NP_001351.2:p.Leu68Pro
XM_011544777.1:c.203T>C XP_011543079.1:p.Leu68Pro
XM_011544777.2:c.203T>C XP_011543079.1:p.Leu68Pro
NM_001163817.2:c.203T>C NP_001157289.1:p.Leu68Pro
NM_001360.3:c.203T>C MANE Select NP_001351.2:p.Leu68Pro
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