Canonical Allele Identifier: CA374121631

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997776A>G (hg19) ; chr9:g.96235494A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235494A>G , CM000671.2:g.96235494A>G	GRCh38
NC_000009.11:g.98997776A>G , CM000671.1:g.98997776A>G	GRCh37
NC_000009.10:g.98037597A>G	NCBI36
NG_008157.1:g.71659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.749T>C	ENSP00000364411.2:p.Val250Ala
ENST00000375263.8:c.899T>C MANE Select	ENSP00000364412.3:p.Val300Ala
ENST00000463517.2:n.2441T>C
ENST00000464104.6:n.1837T>C
ENST00000467499.6:c.*598T>C	ENSP00000498077.1:n.*598T>C
ENST00000494814.6:n.449T>C
ENST00000643789.1:c.3191T>C
ENST00000648146.1:c.1037T>C	ENSP00000497238.1:n.1037T>C
ENST00000648332.1:c.576T>C	ENSP00000497562.1:n.576T>C
ENST00000650005.1:c.828T>C	ENSP00000498121.1:n.828T>C
ENST00000375262.3:c.749T>C	ENSP00000364411.2:p.Val250Ala
ENST00000375263.7:c.899T>C	ENSP00000364412.3:p.Val300Ala
ENST00000464104.5:n.752T>C
ENST00000467499.5:n.159T>C
ENST00000494814.5:n.458T>C
NM_000197.1:c.899T>C	NP_000188.1:p.Val300Ala
XM_005251970.3:c.539T>C	XP_005252027.1:p.Val180Ala
XM_011518618.1:c.899T>C	XP_011516920.1:p.Val300Ala
XM_011518619.1:c.899T>C	XP_011516921.1:p.Val300Ala
XM_011518620.1:c.791T>C	XP_011516922.1:p.Val264Ala
NM_000197.2:c.899T>C MANE Select	NP_000188.1:p.Val300Ala
XM_011518618.2:c.899T>C	XP_011516920.1:p.Val300Ala
XM_011518619.2:c.899T>C	XP_011516921.1:p.Val300Ala
XM_017014671.1:c.899T>C	XP_016870160.1:p.Val300Ala
XM_017014672.1:c.899T>C	XP_016870161.1:p.Val300Ala
XM_017014673.2:c.863T>C	XP_016870162.1:p.Val288Ala
XM_017014674.1:c.791T>C	XP_016870163.1:p.Val264Ala
XM_017014675.1:c.737T>C	XP_016870164.1:p.Val246Ala
XM_017014677.1:c.539T>C	XP_016870166.1:p.Val180Ala
XM_024447529.1:c.737T>C	XP_024303297.1:p.Val246Ala
XR_002956778.1:n.3371T>C