Canonical Allele Identifier: CA374121693

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997783G>C (hg19) ; chr9:g.96235501G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235501G>C , CM000671.2:g.96235501G>C	GRCh38
NC_000009.11:g.98997783G>C , CM000671.1:g.98997783G>C	GRCh37
NC_000009.10:g.98037604G>C	NCBI36
NG_008157.1:g.71652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.742C>G	ENSP00000364411.2:p.His248Asp
ENST00000375263.8:c.892C>G MANE Select	ENSP00000364412.3:p.His298Asp
ENST00000463517.2:n.2434C>G
ENST00000464104.6:n.1830C>G
ENST00000467499.6:c.*591C>G	ENSP00000498077.1:n.*591C>G
ENST00000494814.6:n.442C>G
ENST00000643789.1:c.3184C>G
ENST00000648146.1:c.1030C>G	ENSP00000497238.1:n.1030C>G
ENST00000648332.1:c.569C>G	ENSP00000497562.1:n.569C>G
ENST00000650005.1:c.821C>G	ENSP00000498121.1:n.821C>G
ENST00000375262.3:c.742C>G	ENSP00000364411.2:p.His248Asp
ENST00000375263.7:c.892C>G	ENSP00000364412.3:p.His298Asp
ENST00000464104.5:n.745C>G
ENST00000467499.5:n.152C>G
ENST00000494814.5:n.451C>G
NM_000197.1:c.892C>G	NP_000188.1:p.His298Asp
XM_005251970.3:c.532C>G	XP_005252027.1:p.His178Asp
XM_011518618.1:c.892C>G	XP_011516920.1:p.His298Asp
XM_011518619.1:c.892C>G	XP_011516921.1:p.His298Asp
XM_011518620.1:c.784C>G	XP_011516922.1:p.His262Asp
NM_000197.2:c.892C>G MANE Select	NP_000188.1:p.His298Asp
XM_011518618.2:c.892C>G	XP_011516920.1:p.His298Asp
XM_011518619.2:c.892C>G	XP_011516921.1:p.His298Asp
XM_017014671.1:c.892C>G	XP_016870160.1:p.His298Asp
XM_017014672.1:c.892C>G	XP_016870161.1:p.His298Asp
XM_017014673.2:c.856C>G	XP_016870162.1:p.His286Asp
XM_017014674.1:c.784C>G	XP_016870163.1:p.His262Asp
XM_017014675.1:c.730C>G	XP_016870164.1:p.His244Asp
XM_017014677.1:c.532C>G	XP_016870166.1:p.His178Asp
XM_024447529.1:c.730C>G	XP_024303297.1:p.His244Asp
XR_002956778.1:n.3364C>G