Canonical Allele Identifier: CA374122020

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997840T>G (hg19) ; chr9:g.96235558T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235558T>G , CM000671.2:g.96235558T>G	GRCh38
NC_000009.11:g.98997840T>G , CM000671.1:g.98997840T>G	GRCh37
NC_000009.10:g.98037661T>G	NCBI36
NG_008157.1:g.71595A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.685A>C	ENSP00000364411.2:p.Ser229Arg
ENST00000375263.8:c.835A>C MANE Select	ENSP00000364412.3:p.Ser279Arg
ENST00000463517.2:n.2377A>C
ENST00000464104.6:n.1773A>C
ENST00000467499.6:c.*534A>C	ENSP00000498077.1:n.*534A>C
ENST00000494814.6:n.385A>C
ENST00000643789.1:c.3127A>C
ENST00000648146.1:c.973A>C	ENSP00000497238.1:n.973A>C
ENST00000648332.1:c.512A>C	ENSP00000497562.1:n.512A>C
ENST00000648799.1:c.727A>C	ENSP00000498039.1:p.Ser243Arg
ENST00000650005.1:c.764A>C	ENSP00000498121.1:n.764A>C
ENST00000375262.3:c.685A>C	ENSP00000364411.2:p.Ser229Arg
ENST00000375263.7:c.835A>C	ENSP00000364412.3:p.Ser279Arg
ENST00000464104.5:n.688A>C
ENST00000467499.5:n.95A>C
ENST00000494814.5:n.394A>C
NM_000197.1:c.835A>C	NP_000188.1:p.Ser279Arg
XM_005251970.3:c.475A>C	XP_005252027.1:p.Ser159Arg
XM_011518618.1:c.835A>C	XP_011516920.1:p.Ser279Arg
XM_011518619.1:c.835A>C	XP_011516921.1:p.Ser279Arg
XM_011518620.1:c.727A>C	XP_011516922.1:p.Ser243Arg
NM_000197.2:c.835A>C MANE Select	NP_000188.1:p.Ser279Arg
XM_011518618.2:c.835A>C	XP_011516920.1:p.Ser279Arg
XM_011518619.2:c.835A>C	XP_011516921.1:p.Ser279Arg
XM_017014671.1:c.835A>C	XP_016870160.1:p.Ser279Arg
XM_017014672.1:c.835A>C	XP_016870161.1:p.Ser279Arg
XM_017014673.2:c.799A>C	XP_016870162.1:p.Ser267Arg
XM_017014674.1:c.727A>C	XP_016870163.1:p.Ser243Arg
XM_017014675.1:c.673A>C	XP_016870164.1:p.Ser225Arg
XM_017014677.1:c.475A>C	XP_016870166.1:p.Ser159Arg
XM_024447529.1:c.673A>C	XP_024303297.1:p.Ser225Arg
XR_002956778.1:n.3307A>C