Canonical Allele Identifier: CA115827
Gene: HSD3B7 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2884
ClinVar RCV Id: RCV000003018
dbSNP Id: rs104894518
COSMIC: COSM275498

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986612G>A , CM000678.2:g.30986612G>A GRCh38
NC_000016.9:g.30997933G>A , CM000678.1:g.30997933G>A GRCh37
NC_000016.8:g.30905434G>A NCBI36
NG_012346.1:g.6415G>A
NG_052948.1:g.34319G>A

Transcript Alleles

HGVS Amino-acid change
NM_001142777.1:c.439G>A VV NP_001136249.1:p.Glu147Lys
NM_001142778.1:c.439G>A VV NP_001136250.1:p.Glu147Lys
NM_025193.3:c.439G>A VV NP_079469.2:p.Glu147Lys
XM_005255601.3:c.439G>A XP_005255658.2:p.Glu147Lys
XM_011545960.1:c.439G>A XP_011544262.1:p.Glu147Lys
XM_011545961.1:c.439G>A XP_011544263.1:p.Glu147Lys
XM_011545962.1:c.439G>A XP_011544264.1:p.Glu147Lys
XM_011545960.2:c.439G>A
XM_011545962.2:c.439G>A
XM_017023732.1:c.439G>A XP_016879221.1:p.Glu147Lys
NM_025193.4:c.439G>A VV MANE Preferred
ENST00000262520.10:c.439G>A ENSP00000262520.6:p.Glu147Lys
ENST00000297679.9:c.439G>A ENSP00000297679.5:p.Glu147Lys
ENST00000562932.5:c.562G>A ENSP00000459852.1:p.Glu188Lys
ENST00000574447.1:c.439G>A ENSP00000459689.1:p.Glu147Lys