Canonical Allele Identifier: CA494920761

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986161-T-C
• MyVariant Identifiers: chr16:g.30997482T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986161T>C , CM000678.2:g.30986161T>C	GRCh38
NC_000016.9:g.30997482T>C , CM000678.1:g.30997482T>C	GRCh37
NC_000016.8:g.30904983T>C	NCBI36
NG_012346.1:g.5964T>C
NG_052948.1:g.33868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.279T>C MANE Select	ENSP00000297679.5:p.Phe93=
ENST00000262520.10:c.279T>C	ENSP00000262520.6:p.Phe93=
ENST00000297679.9:c.279T>C	ENSP00000297679.5:p.Phe93=
ENST00000562932.5:c.402T>C	ENSP00000459852.1:p.Phe134=
ENST00000574447.1:c.279T>C	ENSP00000459689.1:p.Phe93=
NM_001142777.1:c.279T>C	NP_001136249.1:p.Phe93=
NM_001142778.1:c.279T>C	NP_001136250.1:p.Phe93=
NM_025193.3:c.279T>C	NP_079469.2:p.Phe93=
XM_005255601.3:c.279T>C	XP_005255658.2:p.Phe93=
XM_011545960.1:c.279T>C	XP_011544262.1:p.Phe93=
XM_011545961.1:c.279T>C	XP_011544263.1:p.Phe93=
XM_011545962.1:c.279T>C	XP_011544264.1:p.Phe93=
XM_011545960.2:c.279T>C	XP_011544262.1:p.Phe93=
XM_011545962.2:c.279T>C	XP_011544264.1:p.Phe93=
XM_017023732.1:c.279T>C	XP_016879221.1:p.Phe93=
NM_025193.4:c.279T>C MANE Select	NP_079469.2:p.Phe93=
NM_001142777.2:c.279T>C	NP_001136249.1:p.Phe93=
NM_001142778.2:c.279T>C	NP_001136250.1:p.Phe93=