Canonical Allele Identifier: CA395641222
Gene: HSD3B7 HGNC NCBI

Linked Data

ClinVar Variation Id: 594920
ClinVar RCV Id: RCV000730322
dbSNP Id: rs1567371833

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986873C>T , CM000678.2:g.30986873C>T GRCh38
NC_000016.9:g.30998194C>T , CM000678.1:g.30998194C>T GRCh37
NC_000016.8:g.30905695C>T NCBI36
NG_012346.1:g.6676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.565C>T MANE Select ENSP00000297679.5:p.Leu189Phe
ENST00000262520.10:c.531+169C>T ENSP00000262520.6:n.531+169C>T
ENST00000297679.9:c.565C>T ENSP00000297679.5:p.Leu189Phe
NM_001142777.1:c.531+169C>T NP_001136249.1:n.531+169C>T
NM_001142778.1:c.531+169C>T NP_001136250.1:n.531+169C>T
NM_025193.3:c.565C>T NP_079469.2:p.Leu189Phe
XM_005255601.3:c.565C>T XP_005255658.2:p.Leu189Phe
XM_011545960.1:c.565C>T XP_011544262.1:p.Leu189Phe
XM_011545961.1:c.565C>T XP_011544263.1:p.Leu189Phe
XM_011545962.1:c.531+169C>T XP_011544264.1:n.531+169C>T
XM_011545960.2:c.565C>T XP_011544262.1:p.Leu189Phe
XM_011545962.2:c.531+169C>T XP_011544264.1:n.531+169C>T
XM_017023732.1:c.531+169C>T XP_016879221.1:n.531+169C>T
NM_025193.4:c.565C>T MANE Select NP_079469.2:p.Leu189Phe
NM_001142777.2:c.531+169C>T NP_001136249.1:n.531+169C>T
NM_001142778.2:c.531+169C>T NP_001136250.1:n.531+169C>T