Canonical Allele Identifier: CA374123521

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006637A>G (hg19) ; chr9:g.96244355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244355A>G , CM000671.2:g.96244355A>G	GRCh38
NC_000009.11:g.99006637A>G , CM000671.1:g.99006637A>G	GRCh37
NC_000009.10:g.98046458A>G	NCBI36
NG_008157.1:g.62798T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.646T>C	ENSP00000364411.2:p.Tyr216His
ENST00000375263.8:c.646T>C MANE Select	ENSP00000364412.3:p.Tyr216His
ENST00000463517.2:n.2188T>C
ENST00000464104.6:n.1584T>C
ENST00000467499.6:c.*345T>C	ENSP00000498077.1:n.*345T>C
ENST00000494814.6:n.158T>C
ENST00000643789.1:c.2938T>C
ENST00000648146.1:c.646T>C	ENSP00000497238.1:p.Tyr216His
ENST00000648332.1:c.323T>C	ENSP00000497562.1:p.Ile108Thr
ENST00000648799.1:c.538T>C	ENSP00000498039.1:p.Tyr180His
ENST00000650005.1:c.575T>C	ENSP00000498121.1:p.Ile192Thr
ENST00000375262.3:c.646T>C	ENSP00000364411.2:p.Tyr216His
ENST00000375263.7:c.646T>C	ENSP00000364412.3:p.Tyr216His
ENST00000464104.5:n.499T>C
ENST00000494814.5:n.167T>C
NM_000197.1:c.646T>C	NP_000188.1:p.Tyr216His
XM_005251970.3:c.286T>C	XP_005252027.1:p.Tyr96His
XM_011518618.1:c.646T>C	XP_011516920.1:p.Tyr216His
XM_011518619.1:c.646T>C	XP_011516921.1:p.Tyr216His
XM_011518620.1:c.538T>C	XP_011516922.1:p.Tyr180His
XM_011518621.1:c.646T>C	XP_011516923.1:p.Tyr216His
NM_000197.2:c.646T>C MANE Select	NP_000188.1:p.Tyr216His
XM_011518618.2:c.646T>C	XP_011516920.1:p.Tyr216His
XM_011518619.2:c.646T>C	XP_011516921.1:p.Tyr216His
XM_017014671.1:c.646T>C	XP_016870160.1:p.Tyr216His
XM_017014672.1:c.646T>C	XP_016870161.1:p.Tyr216His
XM_017014673.2:c.610T>C	XP_016870162.1:p.Tyr204His
XM_017014674.1:c.538T>C	XP_016870163.1:p.Tyr180His
XM_017014675.1:c.484T>C	XP_016870164.1:p.Tyr162His
XM_017014677.1:c.286T>C	XP_016870166.1:p.Tyr96His
XM_024447529.1:c.484T>C	XP_024303297.1:p.Tyr162His
XR_002956778.1:n.3080T>C