Canonical Allele Identifier: CA395641357

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 2320905
• ClinVar RCV Id: RCV002893581
• MyVariant Identifiers: chr16:g.30998222G>A (hg19) ; chr16:g.30986901G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986901G>A , CM000678.2:g.30986901G>A	GRCh38
NC_000016.9:g.30998222G>A , CM000678.1:g.30998222G>A	GRCh37
NC_000016.8:g.30905723G>A	NCBI36
NG_012346.1:g.6704G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.593G>A MANE Select	ENSP00000297679.5:p.Gly198Asp
ENST00000262520.10:c.531+197G>A	ENSP00000262520.6:n.531+197G>A
ENST00000297679.9:c.593G>A	ENSP00000297679.5:p.Gly198Asp
NM_001142777.1:c.531+197G>A	NP_001136249.1:n.531+197G>A
NM_001142778.1:c.531+197G>A	NP_001136250.1:n.531+197G>A
NM_025193.3:c.593G>A	NP_079469.2:p.Gly198Asp
XM_005255601.3:c.593G>A	XP_005255658.2:p.Gly198Asp
XM_011545960.1:c.593G>A	XP_011544262.1:p.Gly198Asp
XM_011545961.1:c.593G>A	XP_011544263.1:p.Gly198Asp
XM_011545962.1:c.531+197G>A	XP_011544264.1:n.531+197G>A
XM_011545960.2:c.593G>A	XP_011544262.1:p.Gly198Asp
XM_011545962.2:c.531+197G>A	XP_011544264.1:n.531+197G>A
XM_017023732.1:c.531+197G>A	XP_016879221.1:n.531+197G>A
NM_025193.4:c.593G>A MANE Select	NP_079469.2:p.Gly198Asp
NM_001142777.2:c.531+197G>A	NP_001136249.1:n.531+197G>A
NM_001142778.2:c.531+197G>A	NP_001136250.1:n.531+197G>A