Canonical Allele Identifier: CA8017944
Gene: HSD3B7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441258
ClinVar RCV Id: RCV001939211
dbSNP Id: rs756963815

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986166G>A , CM000678.2:g.30986166G>A GRCh38
NC_000016.9:g.30997487G>A , CM000678.1:g.30997487G>A GRCh37
NC_000016.8:g.30904988G>A NCBI36
NG_012346.1:g.5969G>A
NG_052948.1:g.33873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.284G>A MANE Select ENSP00000297679.5:p.Arg95Lys
ENST00000262520.10:c.284G>A ENSP00000262520.6:p.Arg95Lys
ENST00000297679.9:c.284G>A ENSP00000297679.5:p.Arg95Lys
ENST00000562932.5:c.407G>A ENSP00000459852.1:p.Arg136Lys
ENST00000574447.1:c.284G>A ENSP00000459689.1:p.Arg95Lys
NM_001142777.1:c.284G>A NP_001136249.1:p.Arg95Lys
NM_001142778.1:c.284G>A NP_001136250.1:p.Arg95Lys
NM_025193.3:c.284G>A NP_079469.2:p.Arg95Lys
XM_005255601.3:c.284G>A XP_005255658.2:p.Arg95Lys
XM_011545960.1:c.284G>A XP_011544262.1:p.Arg95Lys
XM_011545961.1:c.284G>A XP_011544263.1:p.Arg95Lys
XM_011545962.1:c.284G>A XP_011544264.1:p.Arg95Lys
XM_011545960.2:c.284G>A XP_011544262.1:p.Arg95Lys
XM_011545962.2:c.284G>A XP_011544264.1:p.Arg95Lys
XM_017023732.1:c.284G>A XP_016879221.1:p.Arg95Lys
NM_025193.4:c.284G>A MANE Select NP_079469.2:p.Arg95Lys
NM_001142777.2:c.284G>A NP_001136249.1:p.Arg95Lys
NM_001142778.2:c.284G>A NP_001136250.1:p.Arg95Lys