Canonical Allele Identifier: CA5140231

Gene: HSD17B3

Linked Data

• dbSNP Id: rs781752732
• ExAC: 9:98997780 A / G
• gnomAD v2: 9-98997780-A-G
• MyVariant Identifiers: chr9:g.98997780A>G (hg19) ; chr9:g.96235498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235498A>G , CM000671.2:g.96235498A>G	GRCh38
NC_000009.11:g.98997780A>G , CM000671.1:g.98997780A>G	GRCh37
NC_000009.10:g.98037601A>G	NCBI36
NG_008157.1:g.71655T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.745T>C	ENSP00000364411.2:p.Tyr249His
ENST00000375263.8:c.895T>C MANE Select	ENSP00000364412.3:p.Tyr299His
ENST00000463517.2:n.2437T>C
ENST00000464104.6:n.1833T>C
ENST00000467499.6:c.*594T>C	ENSP00000498077.1:n.*594T>C
ENST00000494814.6:n.445T>C
ENST00000643789.1:c.3187T>C
ENST00000648146.1:c.1033T>C	ENSP00000497238.1:n.1033T>C
ENST00000648332.1:c.572T>C	ENSP00000497562.1:n.572T>C
ENST00000650005.1:c.824T>C	ENSP00000498121.1:n.824T>C
ENST00000375262.3:c.745T>C	ENSP00000364411.2:p.Tyr249His
ENST00000375263.7:c.895T>C	ENSP00000364412.3:p.Tyr299His
ENST00000464104.5:n.748T>C
ENST00000467499.5:n.155T>C
ENST00000494814.5:n.454T>C
NM_000197.1:c.895T>C	NP_000188.1:p.Tyr299His
XM_005251970.3:c.535T>C	XP_005252027.1:p.Tyr179His
XM_011518618.1:c.895T>C	XP_011516920.1:p.Tyr299His
XM_011518619.1:c.895T>C	XP_011516921.1:p.Tyr299His
XM_011518620.1:c.787T>C	XP_011516922.1:p.Tyr263His
NM_000197.2:c.895T>C MANE Select	NP_000188.1:p.Tyr299His
XM_011518618.2:c.895T>C	XP_011516920.1:p.Tyr299His
XM_011518619.2:c.895T>C	XP_011516921.1:p.Tyr299His
XM_017014671.1:c.895T>C	XP_016870160.1:p.Tyr299His
XM_017014672.1:c.895T>C	XP_016870161.1:p.Tyr299His
XM_017014673.2:c.859T>C	XP_016870162.1:p.Tyr287His
XM_017014674.1:c.787T>C	XP_016870163.1:p.Tyr263His
XM_017014675.1:c.733T>C	XP_016870164.1:p.Tyr245His
XM_017014677.1:c.535T>C	XP_016870166.1:p.Tyr179His
XM_024447529.1:c.733T>C	XP_024303297.1:p.Tyr245His
XR_002956778.1:n.3367T>C