Canonical Allele Identifier: CA395643416
Gene: HSD3B7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987950T>G , CM000678.2:g.30987950T>G GRCh38
NC_000016.9:g.30999271T>G , CM000678.1:g.30999271T>G GRCh37
NC_000016.8:g.30906772T>G NCBI36
NG_012346.1:g.7753T>G
NG_041829.1:g.27559A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.877T>G MANE Select ENSP00000297679.5:p.Trp293Gly
ENST00000262520.10:c.*123T>G ENSP00000262520.6:n.*123T>G
ENST00000297679.9:c.877T>G ENSP00000297679.5:p.Trp293Gly
NM_001142777.1:c.*123T>G NP_001136249.1:n.*123T>G
NM_001142778.1:c.*123T>G NP_001136250.1:n.*123T>G
NM_025193.3:c.877T>G NP_079469.2:p.Trp293Gly
XM_005255601.3:c.877T>G XP_005255658.2:p.Trp293Gly
XM_011545960.1:c.877T>G XP_011544262.1:p.Trp293Gly
XM_011545961.1:c.877T>G XP_011544263.1:p.Trp293Gly
XM_011545960.2:c.877T>G XP_011544262.1:p.Trp293Gly
XM_011545962.2:c.*123T>G XP_011544264.1:n.*123T>G
XM_017023732.1:c.*123T>G XP_016879221.1:n.*123T>G
NM_025193.4:c.877T>G MANE Select NP_079469.2:p.Trp293Gly
NM_001142777.2:c.*123T>G NP_001136249.1:n.*123T>G
NM_001142778.2:c.*123T>G NP_001136250.1:n.*123T>G