Canonical Allele Identifier: CA2216822900
Gene: HSD3B7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986876C= , CM000678.2:g.30986876C= GRCh38
NC_000016.9:g.30998197C= , CM000678.1:g.30998197C= GRCh37
NC_000016.8:g.30905698C= NCBI36
NG_012346.1:g.6679C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.568C= MANE Select ENSP00000297679.5:p.Arg190=
ENST00000262520.10:c.531+172C= ENSP00000262520.6:n.531+172C=
ENST00000297679.9:c.568C= ENSP00000297679.5:p.Arg190=
NM_001142777.1:c.531+172C= NP_001136249.1:n.531+172C=
NM_001142778.1:c.531+172C= NP_001136250.1:n.531+172C=
NM_025193.3:c.568C= NP_079469.2:p.Arg190=
XM_005255601.3:c.568C= XP_005255658.2:p.Arg190=
XM_011545960.1:c.568C= XP_011544262.1:p.Arg190=
XM_011545961.1:c.568C= XP_011544263.1:p.Arg190=
XM_011545962.1:c.531+172C= XP_011544264.1:n.531+172C=
XM_011545960.2:c.568C= XP_011544262.1:p.Arg190=
XM_011545962.2:c.531+172C= XP_011544264.1:n.531+172C=
XM_017023732.1:c.531+172C= XP_016879221.1:n.531+172C=
NM_025193.4:c.568C= MANE Select NP_079469.2:p.Arg190=
NM_001142777.2:c.531+172C= NP_001136249.1:n.531+172C=
NM_001142778.2:c.531+172C= NP_001136250.1:n.531+172C=