Canonical Allele Identifier: CA395643486

Gene: HSD3B7

Linked Data

• dbSNP Id: rs2056510919
• gnomAD v4: 16-30987962-T-C
• MyVariant Identifiers: chr16:g.30999283T>C (hg19) ; chr16:g.30987962T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987962T>C , CM000678.2:g.30987962T>C	GRCh38
NC_000016.9:g.30999283T>C , CM000678.1:g.30999283T>C	GRCh37
NC_000016.8:g.30906784T>C	NCBI36
NG_012346.1:g.7765T>C
NG_041829.1:g.27547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.889T>C MANE Select	ENSP00000297679.5:p.Phe297Leu
ENST00000262520.10:c.*135T>C	ENSP00000262520.6:n.*135T>C
ENST00000297679.9:c.889T>C	ENSP00000297679.5:p.Phe297Leu
NM_001142777.1:c.*135T>C	NP_001136249.1:n.*135T>C
NM_001142778.1:c.*135T>C	NP_001136250.1:n.*135T>C
NM_025193.3:c.889T>C	NP_079469.2:p.Phe297Leu
XM_005255601.3:c.889T>C	XP_005255658.2:p.Phe297Leu
XM_011545960.1:c.889T>C	XP_011544262.1:p.Phe297Leu
XM_011545961.1:c.889T>C	XP_011544263.1:p.Phe297Leu
XM_011545960.2:c.889T>C	XP_011544262.1:p.Phe297Leu
XM_011545962.2:c.*135T>C	XP_011544264.1:n.*135T>C
XM_017023732.1:c.*135T>C	XP_016879221.1:n.*135T>C
NM_025193.4:c.889T>C MANE Select	NP_079469.2:p.Phe297Leu
NM_001142777.2:c.*135T>C	NP_001136249.1:n.*135T>C
NM_001142778.2:c.*135T>C	NP_001136250.1:n.*135T>C