Canonical Allele Identifier: CA466130826

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99003160T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240878T>G , CM000671.2:g.96240878T>G	GRCh38
NC_000009.11:g.99003160T>G , CM000671.1:g.99003160T>G	GRCh37
NC_000009.10:g.98042981T>G	NCBI36
NG_008157.1:g.66275A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3451A>C	ENSP00000364411.2:n.672+3451A>C
ENST00000375263.8:c.702A>C MANE Select	ENSP00000364412.3:p.Ala234=
ENST00000463517.2:n.2244A>C
ENST00000464104.6:n.1640A>C
ENST00000467499.6:c.*401A>C	ENSP00000498077.1:n.*401A>C
ENST00000484816.2:n.53A>C
ENST00000494814.6:n.252A>C
ENST00000643789.1:c.2994A>C
ENST00000648146.1:c.702A>C	ENSP00000497238.1:p.Ala234=
ENST00000648332.1:c.379A>C	ENSP00000497562.1:n.379A>C
ENST00000648799.1:c.594A>C	ENSP00000498039.1:p.Ala198=
ENST00000650005.1:c.631A>C	ENSP00000498121.1:n.631A>C
ENST00000375262.3:c.672+3451A>C	ENSP00000364411.2:n.672+3451A>C
ENST00000375263.7:c.702A>C	ENSP00000364412.3:p.Ala234=
ENST00000464104.5:n.555A>C
ENST00000484816.1:n.52A>C
ENST00000494814.5:n.261A>C
NM_000197.1:c.702A>C	NP_000188.1:p.Ala234=
XM_005251970.3:c.342A>C	XP_005252027.1:p.Ala114=
XM_011518618.1:c.702A>C	XP_011516920.1:p.Ala234=
XM_011518619.1:c.702A>C	XP_011516921.1:p.Ala234=
XM_011518620.1:c.594A>C	XP_011516922.1:p.Ala198=
XM_011518621.1:c.*23A>C	XP_011516923.1:n.*23A>C
NM_000197.2:c.702A>C MANE Select	NP_000188.1:p.Ala234=
XM_011518618.2:c.702A>C	XP_011516920.1:p.Ala234=
XM_011518619.2:c.702A>C	XP_011516921.1:p.Ala234=
XM_017014671.1:c.702A>C	XP_016870160.1:p.Ala234=
XM_017014672.1:c.702A>C	XP_016870161.1:p.Ala234=
XM_017014673.2:c.666A>C	XP_016870162.1:p.Ala222=
XM_017014674.1:c.594A>C	XP_016870163.1:p.Ala198=
XM_017014675.1:c.540A>C	XP_016870164.1:p.Ala180=
XM_017014677.1:c.342A>C	XP_016870166.1:p.Ala114=
XM_024447529.1:c.540A>C	XP_024303297.1:p.Ala180=
XR_002956778.1:n.3174A>C