Canonical Allele Identifier: CA2216823056
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986938G= , CM000678.2:g.30986938G= GRCh38
NC_000016.9:g.30998259G= , CM000678.1:g.30998259G= GRCh37
NC_000016.8:g.30905760G= NCBI36
NG_012346.1:g.6741G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.630G= MANE Select ENSP00000297679.5:p.Leu210=
ENST00000262520.10:c.531+234G= ENSP00000262520.6:n.531+234G=
ENST00000297679.9:c.630G= ENSP00000297679.5:p.Leu210=
NM_001142777.1:c.531+234G= NP_001136249.1:n.531+234G=
NM_001142778.1:c.531+234G= NP_001136250.1:n.531+234G=
NM_025193.3:c.630G= NP_079469.2:p.Leu210=
XM_005255601.3:c.630G= XP_005255658.2:p.Leu210=
XM_011545960.1:c.630G= XP_011544262.1:p.Leu210=
XM_011545961.1:c.630G= XP_011544263.1:p.Leu210=
XM_011545962.1:c.531+234G= XP_011544264.1:n.531+234G=
XM_011545960.2:c.630G= XP_011544262.1:p.Leu210=
XM_011545962.2:c.531+234G= XP_011544264.1:n.531+234G=
XM_017023732.1:c.531+234G= XP_016879221.1:n.531+234G=
NM_025193.4:c.630G= MANE Select NP_079469.2:p.Leu210=
NM_001142777.2:c.531+234G= NP_001136249.1:n.531+234G=
NM_001142778.2:c.531+234G= NP_001136250.1:n.531+234G=