Canonical Allele Identifier: CA2697557911

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2723968
• ClinVar RCV Id: RCV003561539

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96298396T>A , CM000671.2:g.96298396T>A	GRCh38
NC_000009.11:g.99060678T>A , CM000671.1:g.99060678T>A	GRCh37
NC_000009.10:g.98100499T>A	NCBI36
NG_008157.1:g.8757A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.201+20A>T	ENSP00000364411.2:n.201+20A>T
ENST00000375263.8:c.201+20A>T MANE Select	ENSP00000364412.3:n.201+20A>T
ENST00000463517.2:n.1010+20A>T
ENST00000464104.6:n.671+20A>T
ENST00000467499.6:c.201+20A>T	ENSP00000498077.1:n.201+20A>T
ENST00000643789.1:c.2493+20A>T
ENST00000648146.1:c.201+20A>T	ENSP00000497238.1:n.201+20A>T
ENST00000648332.1:c.201+20A>T	ENSP00000497562.1:n.201+20A>T
ENST00000648799.1:c.201+20A>T	ENSP00000498039.1:n.201+20A>T
ENST00000650005.1:c.201+20A>T	ENSP00000498121.1:n.201+20A>T
ENST00000650386.1:c.201+20A>T	ENSP00000497464.1:n.201+20A>T
ENST00000375262.3:c.201+20A>T	ENSP00000364411.2:n.201+20A>T
ENST00000375263.7:c.201+20A>T	ENSP00000364412.3:n.201+20A>T
NM_000197.1:c.201+20A>T	NP_000188.1:n.201+20A>T
XM_006717095.2:c.201+20A>T	XP_006717158.1:n.201+20A>T
XM_011518618.1:c.201+20A>T	XP_011516920.1:n.201+20A>T
XM_011518619.1:c.201+20A>T	XP_011516921.1:n.201+20A>T
XM_011518620.1:c.201+20A>T	XP_011516922.1:n.201+20A>T
XM_011518621.1:c.201+20A>T	XP_011516923.1:n.201+20A>T
NM_000197.2:c.201+20A>T MANE Select	NP_000188.1:n.201+20A>T
XM_011518618.2:c.201+20A>T	XP_011516920.1:n.201+20A>T
XM_011518619.2:c.201+20A>T	XP_011516921.1:n.201+20A>T
XM_017014671.1:c.201+20A>T	XP_016870160.1:n.201+20A>T
XM_017014672.1:c.201+20A>T	XP_016870161.1:n.201+20A>T
XM_017014673.2:c.201+20A>T	XP_016870162.1:n.201+20A>T
XM_017014674.1:c.201+20A>T	XP_016870163.1:n.201+20A>T
XM_017014675.1:c.115+20A>T	XP_016870164.1:n.115+20A>T
XM_017014677.1:c.-736+20A>T	XP_016870166.1:n.-736+20A>T
XM_024447529.1:c.115+20A>T	XP_024303297.1:n.115+20A>T
XR_002956778.1:n.2635+20A>T