Canonical Allele Identifier: CA374122017

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997839C>A (hg19) ; chr9:g.96235557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235557C>A , CM000671.2:g.96235557C>A	GRCh38
NC_000009.11:g.98997839C>A , CM000671.1:g.98997839C>A	GRCh37
NC_000009.10:g.98037660C>A	NCBI36
NG_008157.1:g.71596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.686G>T	ENSP00000364411.2:p.Ser229Ile
ENST00000375263.8:c.836G>T MANE Select	ENSP00000364412.3:p.Ser279Ile
ENST00000463517.2:n.2378G>T
ENST00000464104.6:n.1774G>T
ENST00000467499.6:c.*535G>T	ENSP00000498077.1:n.*535G>T
ENST00000494814.6:n.386G>T
ENST00000643789.1:c.3128G>T
ENST00000648146.1:c.974G>T	ENSP00000497238.1:n.974G>T
ENST00000648332.1:c.513G>T	ENSP00000497562.1:n.513G>T
ENST00000648799.1:c.728G>T	ENSP00000498039.1:p.Ser243Ile
ENST00000650005.1:c.765G>T	ENSP00000498121.1:n.765G>T
ENST00000375262.3:c.686G>T	ENSP00000364411.2:p.Ser229Ile
ENST00000375263.7:c.836G>T	ENSP00000364412.3:p.Ser279Ile
ENST00000464104.5:n.689G>T
ENST00000467499.5:n.96G>T
ENST00000494814.5:n.395G>T
NM_000197.1:c.836G>T	NP_000188.1:p.Ser279Ile
XM_005251970.3:c.476G>T	XP_005252027.1:p.Ser159Ile
XM_011518618.1:c.836G>T	XP_011516920.1:p.Ser279Ile
XM_011518619.1:c.836G>T	XP_011516921.1:p.Ser279Ile
XM_011518620.1:c.728G>T	XP_011516922.1:p.Ser243Ile
NM_000197.2:c.836G>T MANE Select	NP_000188.1:p.Ser279Ile
XM_011518618.2:c.836G>T	XP_011516920.1:p.Ser279Ile
XM_011518619.2:c.836G>T	XP_011516921.1:p.Ser279Ile
XM_017014671.1:c.836G>T	XP_016870160.1:p.Ser279Ile
XM_017014672.1:c.836G>T	XP_016870161.1:p.Ser279Ile
XM_017014673.2:c.800G>T	XP_016870162.1:p.Ser267Ile
XM_017014674.1:c.728G>T	XP_016870163.1:p.Ser243Ile
XM_017014675.1:c.674G>T	XP_016870164.1:p.Ser225Ile
XM_017014677.1:c.476G>T	XP_016870166.1:p.Ser159Ile
XM_024447529.1:c.674G>T	XP_024303297.1:p.Ser225Ile
XR_002956778.1:n.3308G>T