Canonical Allele Identifier: CA246819

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 198266
• ClinVar RCV Id: RCV000179539 ; RCV003398900 ; RCV004020149
• dbSNP Id: rs143434186
• ExAC: 16:30998266 G / A
• gnomAD v2: 16-30998266-G-A
• gnomAD v3: 16-30986945-G-A
• gnomAD v4: 16-30986945-G-A
• MyVariant Identifiers: chr16:g.30998266G>A (hg19) ; chr16:g.30986945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986945G>A , CM000678.2:g.30986945G>A	GRCh38
NC_000016.9:g.30998266G>A , CM000678.1:g.30998266G>A	GRCh37
NC_000016.8:g.30905767G>A	NCBI36
NG_012346.1:g.6748G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.637G>A MANE Select	ENSP00000297679.5:p.Gly213Arg
ENST00000262520.10:c.531+241G>A	ENSP00000262520.6:n.531+241G>A
ENST00000297679.9:c.637G>A	ENSP00000297679.5:p.Gly213Arg
NM_001142777.1:c.531+241G>A	NP_001136249.1:n.531+241G>A
NM_001142778.1:c.531+241G>A	NP_001136250.1:n.531+241G>A
NM_025193.3:c.637G>A	NP_079469.2:p.Gly213Arg
XM_005255601.3:c.637G>A	XP_005255658.2:p.Gly213Arg
XM_011545960.1:c.637G>A	XP_011544262.1:p.Gly213Arg
XM_011545961.1:c.637G>A	XP_011544263.1:p.Gly213Arg
XM_011545962.1:c.531+241G>A	XP_011544264.1:n.531+241G>A
XM_011545960.2:c.637G>A	XP_011544262.1:p.Gly213Arg
XM_011545962.2:c.531+241G>A	XP_011544264.1:n.531+241G>A
XM_017023732.1:c.531+241G>A	XP_016879221.1:n.531+241G>A
NM_025193.4:c.637G>A MANE Select	NP_079469.2:p.Gly213Arg
NM_001142777.2:c.531+241G>A	NP_001136249.1:n.531+241G>A
NM_001142778.2:c.531+241G>A	NP_001136250.1:n.531+241G>A