Canonical Allele Identifier: CA395640522

Gene: HSD3B7

Linked Data

• dbSNP Id: rs2056483690
• gnomAD v4: 16-30986624-T-C
• MyVariant Identifiers: chr16:g.30997945T>C (hg19) ; chr16:g.30986624T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986624T>C , CM000678.2:g.30986624T>C	GRCh38
NC_000016.9:g.30997945T>C , CM000678.1:g.30997945T>C	GRCh37
NC_000016.8:g.30905446T>C	NCBI36
NG_012346.1:g.6427T>C
NG_052948.1:g.34331T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297679.10:c.451T>C MANE Select	ENSP00000297679.5:p.Tyr151His
ENST00000262520.10:c.451T>C	ENSP00000262520.6:p.Tyr151His
ENST00000297679.9:c.451T>C	ENSP00000297679.5:p.Tyr151His
ENST00000562932.5:c.574T>C	ENSP00000459852.1:p.Tyr192His
ENST00000574447.1:c.451T>C	ENSP00000459689.1:p.Tyr151His
NM_001142777.1:c.451T>C	NP_001136249.1:p.Tyr151His
NM_001142778.1:c.451T>C	NP_001136250.1:p.Tyr151His
NM_025193.3:c.451T>C	NP_079469.2:p.Tyr151His
XM_005255601.3:c.451T>C	XP_005255658.2:p.Tyr151His
XM_011545960.1:c.451T>C	XP_011544262.1:p.Tyr151His
XM_011545961.1:c.451T>C	XP_011544263.1:p.Tyr151His
XM_011545962.1:c.451T>C	XP_011544264.1:p.Tyr151His
XM_011545960.2:c.451T>C	XP_011544262.1:p.Tyr151His
XM_011545962.2:c.451T>C	XP_011544264.1:p.Tyr151His
XM_017023732.1:c.451T>C	XP_016879221.1:p.Tyr151His
NM_025193.4:c.451T>C MANE Select	NP_079469.2:p.Tyr151His
NM_001142777.2:c.451T>C	NP_001136249.1:p.Tyr151His
NM_001142778.2:c.451T>C	NP_001136250.1:p.Tyr151His