Canonical Allele Identifier: CA395641716

Gene: HSD3B7

Linked Data

• gnomAD v4: 16-30986958-T-G
• MyVariant Identifiers: chr16:g.30998279T>G (hg19) ; chr16:g.30986958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30986958T>G , CM000678.2:g.30986958T>G	GRCh38
NC_000016.9:g.30998279T>G , CM000678.1:g.30998279T>G	GRCh37
NC_000016.8:g.30905780T>G	NCBI36
NG_012346.1:g.6761T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297679.10:c.650T>G MANE Select	ENSP00000297679.5:p.Phe217Cys
ENST00000262520.10:c.531+254T>G	ENSP00000262520.6:n.531+254T>G
ENST00000297679.9:c.650T>G	ENSP00000297679.5:p.Phe217Cys
NM_001142777.1:c.531+254T>G	NP_001136249.1:n.531+254T>G
NM_001142778.1:c.531+254T>G	NP_001136250.1:n.531+254T>G
NM_025193.3:c.650T>G	NP_079469.2:p.Phe217Cys
XM_005255601.3:c.650T>G	XP_005255658.2:p.Phe217Cys
XM_011545960.1:c.650T>G	XP_011544262.1:p.Phe217Cys
XM_011545961.1:c.650T>G	XP_011544263.1:p.Phe217Cys
XM_011545962.1:c.531+254T>G	XP_011544264.1:n.531+254T>G
XM_011545960.2:c.650T>G	XP_011544262.1:p.Phe217Cys
XM_011545962.2:c.531+254T>G	XP_011544264.1:n.531+254T>G
XM_017023732.1:c.531+254T>G	XP_016879221.1:n.531+254T>G
NM_025193.4:c.650T>G MANE Select	NP_079469.2:p.Phe217Cys
NM_001142777.2:c.531+254T>G	NP_001136249.1:n.531+254T>G
NM_001142778.2:c.531+254T>G	NP_001136250.1:n.531+254T>G