Canonical Allele Identifier: CA374121801

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997800T>A (hg19) ; chr9:g.96235518T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235518T>A , CM000671.2:g.96235518T>A	GRCh38
NC_000009.11:g.98997800T>A , CM000671.1:g.98997800T>A	GRCh37
NC_000009.10:g.98037621T>A	NCBI36
NG_008157.1:g.71635A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.725A>T	ENSP00000364411.2:p.Gln242Leu
ENST00000375263.8:c.875A>T MANE Select	ENSP00000364412.3:p.Gln292Leu
ENST00000463517.2:n.2417A>T
ENST00000464104.6:n.1813A>T
ENST00000467499.6:c.*574A>T	ENSP00000498077.1:n.*574A>T
ENST00000494814.6:n.425A>T
ENST00000643789.1:c.3167A>T
ENST00000648146.1:c.1013A>T	ENSP00000497238.1:n.1013A>T
ENST00000648332.1:c.552A>T	ENSP00000497562.1:n.552A>T
ENST00000650005.1:c.804A>T	ENSP00000498121.1:n.804A>T
ENST00000375262.3:c.725A>T	ENSP00000364411.2:p.Gln242Leu
ENST00000375263.7:c.875A>T	ENSP00000364412.3:p.Gln292Leu
ENST00000464104.5:n.728A>T
ENST00000467499.5:n.135A>T
ENST00000494814.5:n.434A>T
NM_000197.1:c.875A>T	NP_000188.1:p.Gln292Leu
XM_005251970.3:c.515A>T	XP_005252027.1:p.Gln172Leu
XM_011518618.1:c.875A>T	XP_011516920.1:p.Gln292Leu
XM_011518619.1:c.875A>T	XP_011516921.1:p.Gln292Leu
XM_011518620.1:c.767A>T	XP_011516922.1:p.Gln256Leu
NM_000197.2:c.875A>T MANE Select	NP_000188.1:p.Gln292Leu
XM_011518618.2:c.875A>T	XP_011516920.1:p.Gln292Leu
XM_011518619.2:c.875A>T	XP_011516921.1:p.Gln292Leu
XM_017014671.1:c.875A>T	XP_016870160.1:p.Gln292Leu
XM_017014672.1:c.875A>T	XP_016870161.1:p.Gln292Leu
XM_017014673.2:c.839A>T	XP_016870162.1:p.Gln280Leu
XM_017014674.1:c.767A>T	XP_016870163.1:p.Gln256Leu
XM_017014675.1:c.713A>T	XP_016870164.1:p.Gln238Leu
XM_017014677.1:c.515A>T	XP_016870166.1:p.Gln172Leu
XM_024447529.1:c.713A>T	XP_024303297.1:p.Gln238Leu
XR_002956778.1:n.3347A>T