Canonical Allele Identifier: CA374123459

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006624T>G (hg19) ; chr9:g.96244342T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244342T>G , CM000671.2:g.96244342T>G	GRCh38
NC_000009.11:g.99006624T>G , CM000671.1:g.99006624T>G	GRCh37
NC_000009.10:g.98046445T>G	NCBI36
NG_008157.1:g.62811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.659A>C	ENSP00000364411.2:p.Glu220Ala
ENST00000375263.8:c.659A>C MANE Select	ENSP00000364412.3:p.Glu220Ala
ENST00000463517.2:n.2201A>C
ENST00000464104.6:n.1597A>C
ENST00000467499.6:c.*358A>C	ENSP00000498077.1:n.*358A>C
ENST00000484816.2:n.10A>C
ENST00000494814.6:n.171A>C
ENST00000643789.1:c.2951A>C
ENST00000648146.1:c.659A>C	ENSP00000497238.1:p.Glu220Ala
ENST00000648332.1:c.336A>C	ENSP00000497562.1:n.336A>C
ENST00000648799.1:c.551A>C	ENSP00000498039.1:p.Glu184Ala
ENST00000650005.1:c.588A>C	ENSP00000498121.1:n.588A>C
ENST00000375262.3:c.659A>C	ENSP00000364411.2:p.Glu220Ala
ENST00000375263.7:c.659A>C	ENSP00000364412.3:p.Glu220Ala
ENST00000464104.5:n.512A>C
ENST00000484816.1:n.9A>C
ENST00000494814.5:n.180A>C
NM_000197.1:c.659A>C	NP_000188.1:p.Glu220Ala
XM_005251970.3:c.299A>C	XP_005252027.1:p.Glu100Ala
XM_011518618.1:c.659A>C	XP_011516920.1:p.Glu220Ala
XM_011518619.1:c.659A>C	XP_011516921.1:p.Glu220Ala
XM_011518620.1:c.551A>C	XP_011516922.1:p.Glu184Ala
XM_011518621.1:c.659A>C	XP_011516923.1:p.Glu220Ala
NM_000197.2:c.659A>C MANE Select	NP_000188.1:p.Glu220Ala
XM_011518618.2:c.659A>C	XP_011516920.1:p.Glu220Ala
XM_011518619.2:c.659A>C	XP_011516921.1:p.Glu220Ala
XM_017014671.1:c.659A>C	XP_016870160.1:p.Glu220Ala
XM_017014672.1:c.659A>C	XP_016870161.1:p.Glu220Ala
XM_017014673.2:c.623A>C	XP_016870162.1:p.Glu208Ala
XM_017014674.1:c.551A>C	XP_016870163.1:p.Glu184Ala
XM_017014675.1:c.497A>C	XP_016870164.1:p.Glu166Ala
XM_017014677.1:c.299A>C	XP_016870166.1:p.Glu100Ala
XM_024447529.1:c.497A>C	XP_024303297.1:p.Glu166Ala
XR_002956778.1:n.3093A>C