Canonical Allele Identifier: CA374122018

Gene: HSD17B3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.686G>C	ENSP00000364411.2:p.Ser229Thr
ENST00000375263.8:c.836G>C MANE Select	ENSP00000364412.3:p.Ser279Thr
ENST00000463517.2:n.2378G>C
ENST00000464104.6:n.1774G>C
ENST00000467499.6:c.*535G>C	ENSP00000498077.1:n.*535G>C
ENST00000494814.6:n.386G>C
ENST00000643789.1:c.3128G>C
ENST00000648146.1:c.974G>C	ENSP00000497238.1:n.974G>C
ENST00000648332.1:c.513G>C	ENSP00000497562.1:n.513G>C
ENST00000648799.1:c.728G>C	ENSP00000498039.1:p.Ser243Thr
ENST00000650005.1:c.765G>C	ENSP00000498121.1:n.765G>C
ENST00000375262.3:c.686G>C	ENSP00000364411.2:p.Ser229Thr
ENST00000375263.7:c.836G>C	ENSP00000364412.3:p.Ser279Thr
ENST00000464104.5:n.689G>C
ENST00000467499.5:n.96G>C
ENST00000494814.5:n.395G>C
NM_000197.1:c.836G>C	NP_000188.1:p.Ser279Thr
XM_005251970.3:c.476G>C	XP_005252027.1:p.Ser159Thr
XM_011518618.1:c.836G>C	XP_011516920.1:p.Ser279Thr
XM_011518619.1:c.836G>C	XP_011516921.1:p.Ser279Thr
XM_011518620.1:c.728G>C	XP_011516922.1:p.Ser243Thr
NM_000197.2:c.836G>C MANE Select	NP_000188.1:p.Ser279Thr
XM_011518618.2:c.836G>C	XP_011516920.1:p.Ser279Thr
XM_011518619.2:c.836G>C	XP_011516921.1:p.Ser279Thr
XM_017014671.1:c.836G>C	XP_016870160.1:p.Ser279Thr
XM_017014672.1:c.836G>C	XP_016870161.1:p.Ser279Thr
XM_017014673.2:c.800G>C	XP_016870162.1:p.Ser267Thr
XM_017014674.1:c.728G>C	XP_016870163.1:p.Ser243Thr
XM_017014675.1:c.674G>C	XP_016870164.1:p.Ser225Thr
XM_017014677.1:c.476G>C	XP_016870166.1:p.Ser159Thr
XM_024447529.1:c.674G>C	XP_024303297.1:p.Ser225Thr
XR_002956778.1:n.3308G>C