Canonical Allele Identifier: CA395641754
Gene: HSD3B7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986966A>C , CM000678.2:g.30986966A>C GRCh38
NC_000016.9:g.30998287A>C , CM000678.1:g.30998287A>C GRCh37
NC_000016.8:g.30905788A>C NCBI36
NG_012346.1:g.6769A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.658A>C MANE Select ENSP00000297679.5:p.Ile220Leu
ENST00000262520.10:c.531+262A>C ENSP00000262520.6:n.531+262A>C
ENST00000297679.9:c.658A>C ENSP00000297679.5:p.Ile220Leu
NM_001142777.1:c.531+262A>C NP_001136249.1:n.531+262A>C
NM_001142778.1:c.531+262A>C NP_001136250.1:n.531+262A>C
NM_025193.3:c.658A>C NP_079469.2:p.Ile220Leu
XM_005255601.3:c.658A>C XP_005255658.2:p.Ile220Leu
XM_011545960.1:c.658A>C XP_011544262.1:p.Ile220Leu
XM_011545961.1:c.658A>C XP_011544263.1:p.Ile220Leu
XM_011545962.1:c.531+262A>C XP_011544264.1:n.531+262A>C
XM_011545960.2:c.658A>C XP_011544262.1:p.Ile220Leu
XM_011545962.2:c.531+262A>C XP_011544264.1:n.531+262A>C
XM_017023732.1:c.531+262A>C XP_016879221.1:n.531+262A>C
NM_025193.4:c.658A>C MANE Select NP_079469.2:p.Ile220Leu
NM_001142777.2:c.531+262A>C NP_001136249.1:n.531+262A>C
NM_001142778.2:c.531+262A>C NP_001136250.1:n.531+262A>C