Canonical Allele Identifier: CA395642526

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30987816-G-C
• MyVariant Identifiers: chr16:g.30999137G>C (hg19) ; chr16:g.30987816G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30987816G>C , CM000678.2:g.30987816G>C	GRCh38
NC_000016.9:g.30999137G>C , CM000678.1:g.30999137G>C	GRCh37
NC_000016.8:g.30906638G>C	NCBI36
NG_012346.1:g.7619G>C
NG_041829.1:g.27693C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.743G>C MANE Select	ENSP00000297679.5:p.Arg248Pro
ENST00000262520.10:c.580G>C	ENSP00000262520.6:p.Gly194Arg
ENST00000297679.9:c.743G>C	ENSP00000297679.5:p.Arg248Pro
NM_001142777.1:c.580G>C	NP_001136249.1:p.Gly194Arg
NM_001142778.1:c.580G>C	NP_001136250.1:p.Gly194Arg
NM_025193.3:c.743G>C	NP_079469.2:p.Arg248Pro
XM_005255601.3:c.743G>C	XP_005255658.2:p.Arg248Pro
XM_011545960.1:c.743G>C	XP_011544262.1:p.Arg248Pro
XM_011545961.1:c.743G>C	XP_011544263.1:p.Arg248Pro
XM_011545962.1:c.580G>C	XP_011544264.1:p.Gly194Arg
XM_011545960.2:c.743G>C	XP_011544262.1:p.Arg248Pro
XM_011545962.2:c.580G>C	XP_011544264.1:p.Gly194Arg
XM_017023732.1:c.580G>C	XP_016879221.1:p.Gly194Arg
NM_025193.4:c.743G>C MANE Select	NP_079469.2:p.Arg248Pro
NM_001142777.2:c.580G>C	NP_001136249.1:p.Gly194Arg
NM_001142778.2:c.580G>C	NP_001136250.1:p.Gly194Arg