Canonical Allele Identifier: CA395643439
Gene: HSD3B7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987954T>A , CM000678.2:g.30987954T>A GRCh38
NC_000016.9:g.30999275T>A , CM000678.1:g.30999275T>A GRCh37
NC_000016.8:g.30906776T>A NCBI36
NG_012346.1:g.7757T>A
NG_041829.1:g.27555A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.881T>A MANE Select ENSP00000297679.5:p.Leu294Gln
ENST00000262520.10:c.*127T>A ENSP00000262520.6:n.*127T>A
ENST00000297679.9:c.881T>A ENSP00000297679.5:p.Leu294Gln
NM_001142777.1:c.*127T>A NP_001136249.1:n.*127T>A
NM_001142778.1:c.*127T>A NP_001136250.1:n.*127T>A
NM_025193.3:c.881T>A NP_079469.2:p.Leu294Gln
XM_005255601.3:c.881T>A XP_005255658.2:p.Leu294Gln
XM_011545960.1:c.881T>A XP_011544262.1:p.Leu294Gln
XM_011545961.1:c.881T>A XP_011544263.1:p.Leu294Gln
XM_011545960.2:c.881T>A XP_011544262.1:p.Leu294Gln
XM_011545962.2:c.*127T>A XP_011544264.1:n.*127T>A
XM_017023732.1:c.*127T>A XP_016879221.1:n.*127T>A
NM_025193.4:c.881T>A MANE Select NP_079469.2:p.Leu294Gln
NM_001142777.2:c.*127T>A NP_001136249.1:n.*127T>A
NM_001142778.2:c.*127T>A NP_001136250.1:n.*127T>A