Canonical Allele Identifier: CA8018001

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 499253
• ClinVar RCV Id: RCV000594845 ; RCV003160022
• dbSNP Id: rs774018498
• ExAC: 16:30997948 G / A
• gnomAD v2: 16-30997948-G-A
• gnomAD v3: 16-30986627-G-A
• gnomAD v4: 16-30986627-G-A
• MyVariant Identifiers: chr16:g.30997948G>A (hg19) ; chr16:g.30986627G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986627G>A , CM000678.2:g.30986627G>A	GRCh38
NC_000016.9:g.30997948G>A , CM000678.1:g.30997948G>A	GRCh37
NC_000016.8:g.30905449G>A	NCBI36
NG_012346.1:g.6430G>A
NG_052948.1:g.34334G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297679.10:c.454G>A MANE Select	ENSP00000297679.5:p.Glu152Lys
ENST00000262520.10:c.454G>A	ENSP00000262520.6:p.Glu152Lys
ENST00000297679.9:c.454G>A	ENSP00000297679.5:p.Glu152Lys
ENST00000562932.5:c.577G>A	ENSP00000459852.1:p.Glu193Lys
ENST00000574447.1:c.454G>A	ENSP00000459689.1:p.Glu152Lys
NM_001142777.1:c.454G>A	NP_001136249.1:p.Glu152Lys
NM_001142778.1:c.454G>A	NP_001136250.1:p.Glu152Lys
NM_025193.3:c.454G>A	NP_079469.2:p.Glu152Lys
XM_005255601.3:c.454G>A	XP_005255658.2:p.Glu152Lys
XM_011545960.1:c.454G>A	XP_011544262.1:p.Glu152Lys
XM_011545961.1:c.454G>A	XP_011544263.1:p.Glu152Lys
XM_011545962.1:c.454G>A	XP_011544264.1:p.Glu152Lys
XM_011545960.2:c.454G>A	XP_011544262.1:p.Glu152Lys
XM_011545962.2:c.454G>A	XP_011544264.1:p.Glu152Lys
XM_017023732.1:c.454G>A	XP_016879221.1:p.Glu152Lys
NM_025193.4:c.454G>A MANE Select	NP_079469.2:p.Glu152Lys
NM_001142777.2:c.454G>A	NP_001136249.1:p.Glu152Lys
NM_001142778.2:c.454G>A	NP_001136250.1:p.Glu152Lys