Canonical Allele Identifier: CA374123379

Gene: HSD17B3

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240901T>C , CM000671.2:g.96240901T>C	GRCh38
NC_000009.11:g.99003183T>C , CM000671.1:g.99003183T>C	GRCh37
NC_000009.10:g.98043004T>C	NCBI36
NG_008157.1:g.66252A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000197.2:c.679A>G MANE Select	NP_000188.1:p.Thr227Ala
ENST00000375263.8:c.679A>G MANE Select	ENSP00000364412.3:p.Thr227Ala
NM_000197.1:c.679A>G	NP_000188.1:p.Thr227Ala
ENST00000375262.3:c.672+3428A>G	ENSP00000364411.2:n.672+3428A>G
ENST00000375262.4:c.672+3428A>G	ENSP00000364411.2:n.672+3428A>G
ENST00000375263.7:c.679A>G	ENSP00000364412.3:p.Thr227Ala
ENST00000463517.2:n.2221A>G
ENST00000464104.5:n.532A>G
ENST00000464104.6:n.1617A>G
ENST00000467499.6:c.*378A>G	ENSP00000498077.1:n.*378A>G
ENST00000484816.1:n.29A>G
ENST00000484816.2:n.30A>G
ENST00000494814.5:n.238A>G
ENST00000494814.6:n.229A>G
ENST00000643789.1:c.2971A>G
ENST00000648146.1:c.679A>G	ENSP00000497238.1:p.Thr227Ala
ENST00000648332.1:c.356A>G	ENSP00000497562.1:n.356A>G
ENST00000648799.1:c.571A>G	ENSP00000498039.1:p.Thr191Ala
ENST00000650005.1:c.608A>G	ENSP00000498121.1:n.608A>G
XM_005251970.3:c.319A>G	XP_005252027.1:p.Thr107Ala
XM_011518618.1:c.679A>G	XP_011516920.1:p.Thr227Ala
XM_011518618.2:c.679A>G	XP_011516920.1:p.Thr227Ala
XM_011518619.1:c.679A>G	XP_011516921.1:p.Thr227Ala
XM_011518619.2:c.679A>G	XP_011516921.1:p.Thr227Ala
XM_011518620.1:c.571A>G	XP_011516922.1:p.Thr191Ala
XM_011518621.1:c.717A>G	XP_011516923.1:p.Ter239Trp
XM_017014671.1:c.679A>G	XP_016870160.1:p.Thr227Ala
XM_017014672.1:c.679A>G	XP_016870161.1:p.Thr227Ala
XM_017014673.2:c.643A>G	XP_016870162.1:p.Thr215Ala
XM_017014674.1:c.571A>G	XP_016870163.1:p.Thr191Ala
XM_017014675.1:c.517A>G	XP_016870164.1:p.Thr173Ala
XM_017014677.1:c.319A>G	XP_016870166.1:p.Thr107Ala
XM_024447529.1:c.517A>G	XP_024303297.1:p.Thr173Ala
XR_002956778.1:n.3151A>G