Canonical Allele Identifier: CA494921039
Gene: HSD3B7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.30999297C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30987976C>T , CM000678.2:g.30987976C>T GRCh38
NC_000016.9:g.30999297C>T , CM000678.1:g.30999297C>T GRCh37
NC_000016.8:g.30906798C>T NCBI36
NG_012346.1:g.7779C>T
NG_041829.1:g.27533G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297679.10:c.903C>T MANE Select ENSP00000297679.5:p.Leu301=
ENST00000262520.10:c.*149C>T ENSP00000262520.6:n.*149C>T
ENST00000297679.9:c.903C>T ENSP00000297679.5:p.Leu301=
NM_001142777.1:c.*149C>T NP_001136249.1:n.*149C>T
NM_001142778.1:c.*149C>T NP_001136250.1:n.*149C>T
NM_025193.3:c.903C>T NP_079469.2:p.Leu301=
XM_005255601.3:c.903C>T XP_005255658.2:p.Leu301=
XM_011545960.1:c.903C>T XP_011544262.1:p.Leu301=
XM_011545961.1:c.903C>T XP_011544263.1:p.Leu301=
XM_011545960.2:c.903C>T XP_011544262.1:p.Leu301=
XM_011545962.2:c.*149C>T XP_011544264.1:n.*149C>T
XM_017023732.1:c.*149C>T XP_016879221.1:n.*149C>T
NM_025193.4:c.903C>T MANE Select NP_079469.2:p.Leu301=
NM_001142777.2:c.*149C>T NP_001136249.1:n.*149C>T
NM_001142778.2:c.*149C>T NP_001136250.1:n.*149C>T