Canonical Allele Identifier: CA8018071

Gene: HSD3B7

Linked Data

• ClinVar Variation Id: 502643
• ClinVar RCV Id: RCV000595257 ; RCV004024860
• dbSNP Id: rs750327663
• ExAC: 16:30998300 T / C
• gnomAD v2: 16-30998300-T-C
• gnomAD v3: 16-30986979-T-C
• gnomAD v4: 16-30986979-T-C
• MyVariant Identifiers: chr16:g.30998300T>C (hg19) ; chr16:g.30986979T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986979T>C , CM000678.2:g.30986979T>C	GRCh38
NC_000016.9:g.30998300T>C , CM000678.1:g.30998300T>C	GRCh37
NC_000016.8:g.30905801T>C	NCBI36
NG_012346.1:g.6782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.671T>C MANE Select	ENSP00000297679.5:p.Val224Ala
ENST00000262520.10:c.531+275T>C	ENSP00000262520.6:n.531+275T>C
ENST00000297679.9:c.671T>C	ENSP00000297679.5:p.Val224Ala
NM_001142777.1:c.531+275T>C	NP_001136249.1:n.531+275T>C
NM_001142778.1:c.531+275T>C	NP_001136250.1:n.531+275T>C
NM_025193.3:c.671T>C	NP_079469.2:p.Val224Ala
XM_005255601.3:c.671T>C	XP_005255658.2:p.Val224Ala
XM_011545960.1:c.671T>C	XP_011544262.1:p.Val224Ala
XM_011545961.1:c.671T>C	XP_011544263.1:p.Val224Ala
XM_011545962.1:c.531+275T>C	XP_011544264.1:n.531+275T>C
XM_011545960.2:c.671T>C	XP_011544262.1:p.Val224Ala
XM_011545962.2:c.531+275T>C	XP_011544264.1:n.531+275T>C
XM_017023732.1:c.531+275T>C	XP_016879221.1:n.531+275T>C
NM_025193.4:c.671T>C MANE Select	NP_079469.2:p.Val224Ala
NM_001142777.2:c.531+275T>C	NP_001136249.1:n.531+275T>C
NM_001142778.2:c.531+275T>C	NP_001136250.1:n.531+275T>C