Canonical Allele Identifier: CA395639572
Gene: HSD3B7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986168G>C , CM000678.2:g.30986168G>C GRCh38
NC_000016.9:g.30997489G>C , CM000678.1:g.30997489G>C GRCh37
NC_000016.8:g.30904990G>C NCBI36
NG_012346.1:g.5971G>C
NG_052948.1:g.33875G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.286G>C MANE Select ENSP00000297679.5:p.Ala96Pro
ENST00000262520.10:c.286G>C ENSP00000262520.6:p.Ala96Pro
ENST00000297679.9:c.286G>C ENSP00000297679.5:p.Ala96Pro
ENST00000562932.5:c.409G>C ENSP00000459852.1:p.Ala137Pro
ENST00000574447.1:c.286G>C ENSP00000459689.1:p.Ala96Pro
NM_001142777.1:c.286G>C NP_001136249.1:p.Ala96Pro
NM_001142778.1:c.286G>C NP_001136250.1:p.Ala96Pro
NM_025193.3:c.286G>C NP_079469.2:p.Ala96Pro
XM_005255601.3:c.286G>C XP_005255658.2:p.Ala96Pro
XM_011545960.1:c.286G>C XP_011544262.1:p.Ala96Pro
XM_011545961.1:c.286G>C XP_011544263.1:p.Ala96Pro
XM_011545962.1:c.286G>C XP_011544264.1:p.Ala96Pro
XM_011545960.2:c.286G>C XP_011544262.1:p.Ala96Pro
XM_011545962.2:c.286G>C XP_011544264.1:p.Ala96Pro
XM_017023732.1:c.286G>C XP_016879221.1:p.Ala96Pro
NM_025193.4:c.286G>C MANE Select NP_079469.2:p.Ala96Pro
NM_001142777.2:c.286G>C NP_001136249.1:p.Ala96Pro
NM_001142778.2:c.286G>C NP_001136250.1:p.Ala96Pro