Canonical Allele Identifier: CA2216825182
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987883T= , CM000678.2:g.30987883T= GRCh38
NC_000016.9:g.30999204T= , CM000678.1:g.30999204T= GRCh37
NC_000016.8:g.30906705T= NCBI36
NG_012346.1:g.7686T=
NG_041829.1:g.27626A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.810T= MANE Select ENSP00000297679.5:p.Asp270=
ENST00000262520.10:c.*56T= ENSP00000262520.6:n.*56T=
ENST00000297679.9:c.810T= ENSP00000297679.5:p.Asp270=
NM_001142777.1:c.*56T= NP_001136249.1:n.*56T=
NM_001142778.1:c.*56T= NP_001136250.1:n.*56T=
NM_025193.3:c.810T= NP_079469.2:p.Asp270=
XM_005255601.3:c.810T= XP_005255658.2:p.Asp270=
XM_011545960.1:c.810T= XP_011544262.1:p.Asp270=
XM_011545961.1:c.810T= XP_011544263.1:p.Asp270=
XM_011545962.1:c.*56T= XP_011544264.1:n.*56T=
XM_011545960.2:c.810T= XP_011544262.1:p.Asp270=
XM_011545962.2:c.*56T= XP_011544264.1:n.*56T=
XM_017023732.1:c.*56T= XP_016879221.1:n.*56T=
NM_025193.4:c.810T= MANE Select NP_079469.2:p.Asp270=
NM_001142777.2:c.*56T= NP_001136249.1:n.*56T=
NM_001142778.2:c.*56T= NP_001136250.1:n.*56T=