Canonical Allele Identifier: CA395642963

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30987878-G-A
• MyVariant Identifiers: chr16:g.30999199G>A (hg19) ; chr16:g.30987878G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987878G>A , CM000678.2:g.30987878G>A	GRCh38
NC_000016.9:g.30999199G>A , CM000678.1:g.30999199G>A	GRCh37
NC_000016.8:g.30906700G>A	NCBI36
NG_012346.1:g.7681G>A
NG_041829.1:g.27631C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.805G>A MANE Select	ENSP00000297679.5:p.Glu269Lys
ENST00000262520.10:c.*51G>A	ENSP00000262520.6:n.*51G>A
ENST00000297679.9:c.805G>A	ENSP00000297679.5:p.Glu269Lys
NM_001142777.1:c.*51G>A	NP_001136249.1:n.*51G>A
NM_001142778.1:c.*51G>A	NP_001136250.1:n.*51G>A
NM_025193.3:c.805G>A	NP_079469.2:p.Glu269Lys
XM_005255601.3:c.805G>A	XP_005255658.2:p.Glu269Lys
XM_011545960.1:c.805G>A	XP_011544262.1:p.Glu269Lys
XM_011545961.1:c.805G>A	XP_011544263.1:p.Glu269Lys
XM_011545962.1:c.*51G>A	XP_011544264.1:n.*51G>A
XM_011545960.2:c.805G>A	XP_011544262.1:p.Glu269Lys
XM_011545962.2:c.*51G>A	XP_011544264.1:n.*51G>A
XM_017023732.1:c.*51G>A	XP_016879221.1:n.*51G>A
NM_025193.4:c.805G>A MANE Select	NP_079469.2:p.Glu269Lys
NM_001142777.2:c.*51G>A	NP_001136249.1:n.*51G>A
NM_001142778.2:c.*51G>A	NP_001136250.1:n.*51G>A