Canonical Allele Identifier: CA466129568

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 3000848
• ClinVar RCV Id: RCV003860007
• dbSNP Id: rs1461927147
• MyVariant Identifiers: chr9:g.98997781G>A (hg19) ; chr9:g.96235499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235499G>A , CM000671.2:g.96235499G>A	GRCh38
NC_000009.11:g.98997781G>A , CM000671.1:g.98997781G>A	GRCh37
NC_000009.10:g.98037602G>A	NCBI36
NG_008157.1:g.71654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.744C>T	ENSP00000364411.2:p.His248=
ENST00000375263.8:c.894C>T MANE Select	ENSP00000364412.3:p.His298=
ENST00000463517.2:n.2436C>T
ENST00000464104.6:n.1832C>T
ENST00000467499.6:c.*593C>T	ENSP00000498077.1:n.*593C>T
ENST00000494814.6:n.444C>T
ENST00000643789.1:c.3186C>T
ENST00000648146.1:c.1032C>T	ENSP00000497238.1:n.1032C>T
ENST00000648332.1:c.571C>T	ENSP00000497562.1:n.571C>T
ENST00000650005.1:c.823C>T	ENSP00000498121.1:n.823C>T
ENST00000375262.3:c.744C>T	ENSP00000364411.2:p.His248=
ENST00000375263.7:c.894C>T	ENSP00000364412.3:p.His298=
ENST00000464104.5:n.747C>T
ENST00000467499.5:n.154C>T
ENST00000494814.5:n.453C>T
NM_000197.1:c.894C>T	NP_000188.1:p.His298=
XM_005251970.3:c.534C>T	XP_005252027.1:p.His178=
XM_011518618.1:c.894C>T	XP_011516920.1:p.His298=
XM_011518619.1:c.894C>T	XP_011516921.1:p.His298=
XM_011518620.1:c.786C>T	XP_011516922.1:p.His262=
NM_000197.2:c.894C>T MANE Select	NP_000188.1:p.His298=
XM_011518618.2:c.894C>T	XP_011516920.1:p.His298=
XM_011518619.2:c.894C>T	XP_011516921.1:p.His298=
XM_017014671.1:c.894C>T	XP_016870160.1:p.His298=
XM_017014672.1:c.894C>T	XP_016870161.1:p.His298=
XM_017014673.2:c.858C>T	XP_016870162.1:p.His286=
XM_017014674.1:c.786C>T	XP_016870163.1:p.His262=
XM_017014675.1:c.732C>T	XP_016870164.1:p.His244=
XM_017014677.1:c.534C>T	XP_016870166.1:p.His178=
XM_024447529.1:c.732C>T	XP_024303297.1:p.His244=
XR_002956778.1:n.3366C>T