Canonical Allele Identifier: CA196609203

Gene: HSD17B3

Linked Data

• dbSNP Id: rs960760474
• MyVariant Identifiers: chr9:g.98997796C>A (hg19) ; chr9:g.96235514C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235514C>A , CM000671.2:g.96235514C>A	GRCh38
NC_000009.11:g.98997796C>A , CM000671.1:g.98997796C>A	GRCh37
NC_000009.10:g.98037617C>A	NCBI36
NG_008157.1:g.71639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.729G>T	ENSP00000364411.2:p.Arg243Ser
ENST00000375263.8:c.879G>T MANE Select	ENSP00000364412.3:p.Arg293Ser
ENST00000463517.2:n.2421G>T
ENST00000464104.6:n.1817G>T
ENST00000467499.6:c.*578G>T	ENSP00000498077.1:n.*578G>T
ENST00000494814.6:n.429G>T
ENST00000643789.1:c.3171G>T
ENST00000648146.1:c.1017G>T	ENSP00000497238.1:n.1017G>T
ENST00000648332.1:c.556G>T	ENSP00000497562.1:n.556G>T
ENST00000650005.1:c.808G>T	ENSP00000498121.1:n.808G>T
ENST00000375262.3:c.729G>T	ENSP00000364411.2:p.Arg243Ser
ENST00000375263.7:c.879G>T	ENSP00000364412.3:p.Arg293Ser
ENST00000464104.5:n.732G>T
ENST00000467499.5:n.139G>T
ENST00000494814.5:n.438G>T
NM_000197.1:c.879G>T	NP_000188.1:p.Arg293Ser
XM_005251970.3:c.519G>T	XP_005252027.1:p.Arg173Ser
XM_011518618.1:c.879G>T	XP_011516920.1:p.Arg293Ser
XM_011518619.1:c.879G>T	XP_011516921.1:p.Arg293Ser
XM_011518620.1:c.771G>T	XP_011516922.1:p.Arg257Ser
NM_000197.2:c.879G>T MANE Select	NP_000188.1:p.Arg293Ser
XM_011518618.2:c.879G>T	XP_011516920.1:p.Arg293Ser
XM_011518619.2:c.879G>T	XP_011516921.1:p.Arg293Ser
XM_017014671.1:c.879G>T	XP_016870160.1:p.Arg293Ser
XM_017014672.1:c.879G>T	XP_016870161.1:p.Arg293Ser
XM_017014673.2:c.843G>T	XP_016870162.1:p.Arg281Ser
XM_017014674.1:c.771G>T	XP_016870163.1:p.Arg257Ser
XM_017014675.1:c.717G>T	XP_016870164.1:p.Arg239Ser
XM_017014677.1:c.519G>T	XP_016870166.1:p.Arg173Ser
XM_024447529.1:c.717G>T	XP_024303297.1:p.Arg239Ser
XR_002956778.1:n.3351G>T