Canonical Allele Identifier: CA280561940
Gene: HSD3B7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2091027
ClinVar RCV Id: RCV003013402
dbSNP Id: rs199909008

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986526C>T , CM000678.2:g.30986526C>T GRCh38
NC_000016.9:g.30997847C>T , CM000678.1:g.30997847C>T GRCh37
NC_000016.8:g.30905348C>T NCBI36
NG_012346.1:g.6329C>T
NG_052948.1:g.34233C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297679.10:c.426C>T MANE Select ENSP00000297679.5:p.Phe142=
ENST00000262520.10:c.426C>T ENSP00000262520.6:p.Phe142=
ENST00000297679.9:c.426C>T ENSP00000297679.5:p.Phe142=
ENST00000562932.5:c.549C>T ENSP00000459852.1:p.Phe183=
ENST00000574447.1:c.426C>T ENSP00000459689.1:p.Phe142=
NM_001142777.1:c.426C>T NP_001136249.1:p.Phe142=
NM_001142778.1:c.426C>T NP_001136250.1:p.Phe142=
NM_025193.3:c.426C>T NP_079469.2:p.Phe142=
XM_005255601.3:c.426C>T XP_005255658.2:p.Phe142=
XM_011545960.1:c.426C>T XP_011544262.1:p.Phe142=
XM_011545961.1:c.426C>T XP_011544263.1:p.Phe142=
XM_011545962.1:c.426C>T XP_011544264.1:p.Phe142=
XM_011545960.2:c.426C>T XP_011544262.1:p.Phe142=
XM_011545962.2:c.426C>T XP_011544264.1:p.Phe142=
XM_017023732.1:c.426C>T XP_016879221.1:p.Phe142=
NM_025193.4:c.426C>T MANE Select NP_079469.2:p.Phe142=
NM_001142777.2:c.426C>T NP_001136249.1:p.Phe142=
NM_001142778.2:c.426C>T NP_001136250.1:p.Phe142=