Canonical Allele Identifier: CA374122033

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997843G>C (hg19) ; chr9:g.96235561G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235561G>C , CM000671.2:g.96235561G>C	GRCh38
NC_000009.11:g.98997843G>C , CM000671.1:g.98997843G>C	GRCh37
NC_000009.10:g.98037664G>C	NCBI36
NG_008157.1:g.71592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.682C>G	ENSP00000364411.2:p.Leu228Val
ENST00000375263.8:c.832C>G MANE Select	ENSP00000364412.3:p.Leu278Val
ENST00000463517.2:n.2374C>G
ENST00000464104.6:n.1770C>G
ENST00000467499.6:c.*531C>G	ENSP00000498077.1:n.*531C>G
ENST00000494814.6:n.382C>G
ENST00000643789.1:c.3124C>G
ENST00000648146.1:c.970C>G	ENSP00000497238.1:n.970C>G
ENST00000648332.1:c.509C>G	ENSP00000497562.1:n.509C>G
ENST00000648799.1:c.724C>G	ENSP00000498039.1:p.Leu242Val
ENST00000650005.1:c.761C>G	ENSP00000498121.1:n.761C>G
ENST00000375262.3:c.682C>G	ENSP00000364411.2:p.Leu228Val
ENST00000375263.7:c.832C>G	ENSP00000364412.3:p.Leu278Val
ENST00000464104.5:n.685C>G
ENST00000467499.5:n.92C>G
ENST00000494814.5:n.391C>G
NM_000197.1:c.832C>G	NP_000188.1:p.Leu278Val
XM_005251970.3:c.472C>G	XP_005252027.1:p.Leu158Val
XM_011518618.1:c.832C>G	XP_011516920.1:p.Leu278Val
XM_011518619.1:c.832C>G	XP_011516921.1:p.Leu278Val
XM_011518620.1:c.724C>G	XP_011516922.1:p.Leu242Val
NM_000197.2:c.832C>G MANE Select	NP_000188.1:p.Leu278Val
XM_011518618.2:c.832C>G	XP_011516920.1:p.Leu278Val
XM_011518619.2:c.832C>G	XP_011516921.1:p.Leu278Val
XM_017014671.1:c.832C>G	XP_016870160.1:p.Leu278Val
XM_017014672.1:c.832C>G	XP_016870161.1:p.Leu278Val
XM_017014673.2:c.796C>G	XP_016870162.1:p.Leu266Val
XM_017014674.1:c.724C>G	XP_016870163.1:p.Leu242Val
XM_017014675.1:c.670C>G	XP_016870164.1:p.Leu224Val
XM_017014677.1:c.472C>G	XP_016870166.1:p.Leu158Val
XM_024447529.1:c.670C>G	XP_024303297.1:p.Leu224Val
XR_002956778.1:n.3304C>G