Canonical Allele Identifier: CA395643006

Gene: HSD3B7

Linked Data

• dbSNP Id: rs2056508411
• gnomAD v3: 16-30987883-T-G
• gnomAD v4: 16-30987883-T-G
• MyVariant Identifiers: chr16:g.30999204T>G (hg19) ; chr16:g.30987883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987883T>G , CM000678.2:g.30987883T>G	GRCh38
NC_000016.9:g.30999204T>G , CM000678.1:g.30999204T>G	GRCh37
NC_000016.8:g.30906705T>G	NCBI36
NG_012346.1:g.7686T>G
NG_041829.1:g.27626A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.810T>G MANE Select	ENSP00000297679.5:p.Asp270Glu
ENST00000262520.10:c.*56T>G	ENSP00000262520.6:n.*56T>G
ENST00000297679.9:c.810T>G	ENSP00000297679.5:p.Asp270Glu
NM_001142777.1:c.*56T>G	NP_001136249.1:n.*56T>G
NM_001142778.1:c.*56T>G	NP_001136250.1:n.*56T>G
NM_025193.3:c.810T>G	NP_079469.2:p.Asp270Glu
XM_005255601.3:c.810T>G	XP_005255658.2:p.Asp270Glu
XM_011545960.1:c.810T>G	XP_011544262.1:p.Asp270Glu
XM_011545961.1:c.810T>G	XP_011544263.1:p.Asp270Glu
XM_011545962.1:c.*56T>G	XP_011544264.1:n.*56T>G
XM_011545960.2:c.810T>G	XP_011544262.1:p.Asp270Glu
XM_011545962.2:c.*56T>G	XP_011544264.1:n.*56T>G
XM_017023732.1:c.*56T>G	XP_016879221.1:n.*56T>G
NM_025193.4:c.810T>G MANE Select	NP_079469.2:p.Asp270Glu
NM_001142777.2:c.*56T>G	NP_001136249.1:n.*56T>G
NM_001142778.2:c.*56T>G	NP_001136250.1:n.*56T>G