Canonical Allele Identifier: CA2216825234

Gene: HSD3B7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987910C= , CM000678.2:g.30987910C=	GRCh38
NC_000016.9:g.30999231C= , CM000678.1:g.30999231C=	GRCh37
NC_000016.8:g.30906732C=	NCBI36
NG_012346.1:g.7713C=
NG_041829.1:g.27599G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.837C= MANE Select	ENSP00000297679.5:p.Cys279=
ENST00000262520.10:c.*83C=	ENSP00000262520.6:n.*83C=
ENST00000297679.9:c.837C=	ENSP00000297679.5:p.Cys279=
NM_001142777.1:c.*83C=	NP_001136249.1:n.*83C=
NM_001142778.1:c.*83C=	NP_001136250.1:n.*83C=
NM_025193.3:c.837C=	NP_079469.2:p.Cys279=
XM_005255601.3:c.837C=	XP_005255658.2:p.Cys279=
XM_011545960.1:c.837C=	XP_011544262.1:p.Cys279=
XM_011545961.1:c.837C=	XP_011544263.1:p.Cys279=
XM_011545962.1:c.*83C=	XP_011544264.1:n.*83C=
XM_011545960.2:c.837C=	XP_011544262.1:p.Cys279=
XM_011545962.2:c.*83C=	XP_011544264.1:n.*83C=
XM_017023732.1:c.*83C=	XP_016879221.1:n.*83C=
NM_025193.4:c.837C= MANE Select	NP_079469.2:p.Cys279=
NM_001142777.2:c.*83C=	NP_001136249.1:n.*83C=
NM_001142778.2:c.*83C=	NP_001136250.1:n.*83C=