Canonical Allele Identifier: CA395641298
Gene: HSD3B7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30986891T>A , CM000678.2:g.30986891T>A GRCh38
NC_000016.9:g.30998212T>A , CM000678.1:g.30998212T>A GRCh37
NC_000016.8:g.30905713T>A NCBI36
NG_012346.1:g.6694T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.583T>A MANE Select ENSP00000297679.5:p.Tyr195Asn
ENST00000262520.10:c.531+187T>A ENSP00000262520.6:n.531+187T>A
ENST00000297679.9:c.583T>A ENSP00000297679.5:p.Tyr195Asn
NM_001142777.1:c.531+187T>A NP_001136249.1:n.531+187T>A
NM_001142778.1:c.531+187T>A NP_001136250.1:n.531+187T>A
NM_025193.3:c.583T>A NP_079469.2:p.Tyr195Asn
XM_005255601.3:c.583T>A XP_005255658.2:p.Tyr195Asn
XM_011545960.1:c.583T>A XP_011544262.1:p.Tyr195Asn
XM_011545961.1:c.583T>A XP_011544263.1:p.Tyr195Asn
XM_011545962.1:c.531+187T>A XP_011544264.1:n.531+187T>A
XM_011545960.2:c.583T>A XP_011544262.1:p.Tyr195Asn
XM_011545962.2:c.531+187T>A XP_011544264.1:n.531+187T>A
XM_017023732.1:c.531+187T>A XP_016879221.1:n.531+187T>A
NM_025193.4:c.583T>A MANE Select NP_079469.2:p.Tyr195Asn
NM_001142777.2:c.531+187T>A NP_001136249.1:n.531+187T>A
NM_001142778.2:c.531+187T>A NP_001136250.1:n.531+187T>A