Canonical Allele Identifier: CA8017924

Gene: HSD3B7

Linked Data

• dbSNP Id: rs755952002
• ExAC: 16:30997411 G / A
• gnomAD v2: 16-30997411-G-A
• gnomAD v4: 16-30986090-G-A
• MyVariant Identifiers: chr16:g.30997411G>A (hg19) ; chr16:g.30986090G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986090G>A , CM000678.2:g.30986090G>A	GRCh38
NC_000016.9:g.30997411G>A , CM000678.1:g.30997411G>A	GRCh37
NC_000016.8:g.30904912G>A	NCBI36
NG_012346.1:g.5893G>A
NG_052948.1:g.33797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.208G>A MANE Select	ENSP00000297679.5:p.Ala70Thr
ENST00000262520.10:c.208G>A	ENSP00000262520.6:p.Ala70Thr
ENST00000297679.9:c.208G>A	ENSP00000297679.5:p.Ala70Thr
ENST00000562932.5:c.331G>A	ENSP00000459852.1:p.Ala111Thr
ENST00000574447.1:c.208G>A	ENSP00000459689.1:p.Ala70Thr
NM_001142777.1:c.208G>A	NP_001136249.1:p.Ala70Thr
NM_001142778.1:c.208G>A	NP_001136250.1:p.Ala70Thr
NM_025193.3:c.208G>A	NP_079469.2:p.Ala70Thr
XM_005255601.3:c.208G>A	XP_005255658.2:p.Ala70Thr
XM_011545960.1:c.208G>A	XP_011544262.1:p.Ala70Thr
XM_011545961.1:c.208G>A	XP_011544263.1:p.Ala70Thr
XM_011545962.1:c.208G>A	XP_011544264.1:p.Ala70Thr
XM_011545960.2:c.208G>A	XP_011544262.1:p.Ala70Thr
XM_011545962.2:c.208G>A	XP_011544264.1:p.Ala70Thr
XM_017023732.1:c.208G>A	XP_016879221.1:p.Ala70Thr
NM_025193.4:c.208G>A MANE Select	NP_079469.2:p.Ala70Thr
NM_001142777.2:c.208G>A	NP_001136249.1:p.Ala70Thr
NM_001142778.2:c.208G>A	NP_001136250.1:p.Ala70Thr