Canonical Allele Identifier: CA374123580

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2482188
• ClinVar RCV Id: RCV003214622
• MyVariant Identifiers: chr9:g.99006648A>C (hg19) ; chr9:g.96244366A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244366A>C , CM000671.2:g.96244366A>C	GRCh38
NC_000009.11:g.99006648A>C , CM000671.1:g.99006648A>C	GRCh37
NC_000009.10:g.98046469A>C	NCBI36
NG_008157.1:g.62787T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.635T>G	ENSP00000364411.2:p.Leu212Arg
ENST00000375263.8:c.635T>G MANE Select	ENSP00000364412.3:p.Leu212Arg
ENST00000463517.2:n.2177T>G
ENST00000464104.6:n.1573T>G
ENST00000467499.6:c.*334T>G	ENSP00000498077.1:n.*334T>G
ENST00000494814.6:n.147T>G
ENST00000643789.1:c.2927T>G
ENST00000648146.1:c.635T>G	ENSP00000497238.1:p.Leu212Arg
ENST00000648332.1:c.312T>G	ENSP00000497562.1:p.Pro104=
ENST00000648799.1:c.527T>G	ENSP00000498039.1:p.Leu176Arg
ENST00000650005.1:c.564T>G	ENSP00000498121.1:p.Pro188=
ENST00000375262.3:c.635T>G	ENSP00000364411.2:p.Leu212Arg
ENST00000375263.7:c.635T>G	ENSP00000364412.3:p.Leu212Arg
ENST00000464104.5:n.488T>G
ENST00000494814.5:n.156T>G
NM_000197.1:c.635T>G	NP_000188.1:p.Leu212Arg
XM_005251970.3:c.275T>G	XP_005252027.1:p.Leu92Arg
XM_011518618.1:c.635T>G	XP_011516920.1:p.Leu212Arg
XM_011518619.1:c.635T>G	XP_011516921.1:p.Leu212Arg
XM_011518620.1:c.527T>G	XP_011516922.1:p.Leu176Arg
XM_011518621.1:c.635T>G	XP_011516923.1:p.Leu212Arg
NM_000197.2:c.635T>G MANE Select	NP_000188.1:p.Leu212Arg
XM_011518618.2:c.635T>G	XP_011516920.1:p.Leu212Arg
XM_011518619.2:c.635T>G	XP_011516921.1:p.Leu212Arg
XM_017014671.1:c.635T>G	XP_016870160.1:p.Leu212Arg
XM_017014672.1:c.635T>G	XP_016870161.1:p.Leu212Arg
XM_017014673.2:c.599T>G	XP_016870162.1:p.Leu200Arg
XM_017014674.1:c.527T>G	XP_016870163.1:p.Leu176Arg
XM_017014675.1:c.473T>G	XP_016870164.1:p.Leu158Arg
XM_017014677.1:c.275T>G	XP_016870166.1:p.Leu92Arg
XM_024447529.1:c.473T>G	XP_024303297.1:p.Leu158Arg
XR_002956778.1:n.3069T>G