Canonical Allele Identifier: CA374121921

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997822C>T (hg19) ; chr9:g.96235540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235540C>T , CM000671.2:g.96235540C>T	GRCh38
NC_000009.11:g.98997822C>T , CM000671.1:g.98997822C>T	GRCh37
NC_000009.10:g.98037643C>T	NCBI36
NG_008157.1:g.71613G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.703G>A	ENSP00000364411.2:p.Ala235Thr
ENST00000375263.8:c.853G>A MANE Select	ENSP00000364412.3:p.Ala285Thr
ENST00000463517.2:n.2395G>A
ENST00000464104.6:n.1791G>A
ENST00000467499.6:c.*552G>A	ENSP00000498077.1:n.*552G>A
ENST00000494814.6:n.403G>A
ENST00000643789.1:c.3145G>A
ENST00000648146.1:c.991G>A	ENSP00000497238.1:n.991G>A
ENST00000648332.1:c.530G>A	ENSP00000497562.1:n.530G>A
ENST00000650005.1:c.782G>A	ENSP00000498121.1:n.782G>A
ENST00000375262.3:c.703G>A	ENSP00000364411.2:p.Ala235Thr
ENST00000375263.7:c.853G>A	ENSP00000364412.3:p.Ala285Thr
ENST00000464104.5:n.706G>A
ENST00000467499.5:n.113G>A
ENST00000494814.5:n.412G>A
NM_000197.1:c.853G>A	NP_000188.1:p.Ala285Thr
XM_005251970.3:c.493G>A	XP_005252027.1:p.Ala165Thr
XM_011518618.1:c.853G>A	XP_011516920.1:p.Ala285Thr
XM_011518619.1:c.853G>A	XP_011516921.1:p.Ala285Thr
XM_011518620.1:c.745G>A	XP_011516922.1:p.Ala249Thr
NM_000197.2:c.853G>A MANE Select	NP_000188.1:p.Ala285Thr
XM_011518618.2:c.853G>A	XP_011516920.1:p.Ala285Thr
XM_011518619.2:c.853G>A	XP_011516921.1:p.Ala285Thr
XM_017014671.1:c.853G>A	XP_016870160.1:p.Ala285Thr
XM_017014672.1:c.853G>A	XP_016870161.1:p.Ala285Thr
XM_017014673.2:c.817G>A	XP_016870162.1:p.Ala273Thr
XM_017014674.1:c.745G>A	XP_016870163.1:p.Ala249Thr
XM_017014675.1:c.691G>A	XP_016870164.1:p.Ala231Thr
XM_017014677.1:c.493G>A	XP_016870166.1:p.Ala165Thr
XM_024447529.1:c.691G>A	XP_024303297.1:p.Ala231Thr
XR_002956778.1:n.3325G>A