Canonical Allele Identifier: CA5140225

Gene: HSD17B3

Linked Data

• dbSNP Id: rs779242660
• ExAC: 9:98997746 C / T
• gnomAD v2: 9-98997746-C-T
• gnomAD v3: 9-96235464-C-T
• gnomAD v4: 9-96235464-C-T
• MyVariant Identifiers: chr9:g.98997746C>T (hg19) ; chr9:g.96235464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235464C>T , CM000671.2:g.96235464C>T	GRCh38
NC_000009.11:g.98997746C>T , CM000671.1:g.98997746C>T	GRCh37
NC_000009.10:g.98037567C>T	NCBI36
NG_008157.1:g.71689G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.779G>A	ENSP00000364411.2:p.Arg260Lys
ENST00000375263.8:c.929G>A MANE Select	ENSP00000364412.3:p.Arg310Lys
ENST00000463517.2:n.2471G>A
ENST00000464104.6:n.1867G>A
ENST00000467499.6:c.*628G>A	ENSP00000498077.1:n.*628G>A
ENST00000494814.6:n.479G>A
ENST00000643789.1:c.3221G>A
ENST00000648146.1:c.1067G>A	ENSP00000497238.1:n.1067G>A
ENST00000648332.1:c.606G>A	ENSP00000497562.1:n.606G>A
ENST00000650005.1:c.858G>A	ENSP00000498121.1:n.858G>A
ENST00000375262.3:c.779G>A	ENSP00000364411.2:p.Arg260Lys
ENST00000375263.7:c.929G>A	ENSP00000364412.3:p.Arg310Lys
ENST00000464104.5:n.782G>A
ENST00000467499.5:n.189G>A
ENST00000494814.5:n.488G>A
NM_000197.1:c.929G>A	NP_000188.1:p.Arg310Lys
XM_005251970.3:c.569G>A	XP_005252027.1:p.Arg190Lys
XM_011518618.1:c.929G>A	XP_011516920.1:p.Arg310Lys
XM_011518619.1:c.929G>A	XP_011516921.1:p.Arg310Lys
XM_011518620.1:c.821G>A	XP_011516922.1:p.Arg274Lys
NM_000197.2:c.929G>A MANE Select	NP_000188.1:p.Arg310Lys
XM_011518618.2:c.929G>A	XP_011516920.1:p.Arg310Lys
XM_011518619.2:c.929G>A	XP_011516921.1:p.Arg310Lys
XM_017014671.1:c.929G>A	XP_016870160.1:p.Arg310Lys
XM_017014672.1:c.929G>A	XP_016870161.1:p.Arg310Lys
XM_017014673.2:c.893G>A	XP_016870162.1:p.Arg298Lys
XM_017014674.1:c.821G>A	XP_016870163.1:p.Arg274Lys
XM_017014675.1:c.767G>A	XP_016870164.1:p.Arg256Lys
XM_017014677.1:c.569G>A	XP_016870166.1:p.Arg190Lys
XM_024447529.1:c.767G>A	XP_024303297.1:p.Arg256Lys
XR_002956778.1:n.3401G>A