Canonical Allele Identifier: CA466129689
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs1836202018
MyVariant Identifiers: chr9:g.98997826G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235544G>A , CM000671.2:g.96235544G>A GRCh38
NC_000009.11:g.98997826G>A , CM000671.1:g.98997826G>A GRCh37
NC_000009.10:g.98037647G>A NCBI36
NG_008157.1:g.71609C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.699C>T ENSP00000364411.2:p.Ala233=
ENST00000375263.8:c.849C>T MANE Select ENSP00000364412.3:p.Ala283=
ENST00000463517.2:n.2391C>T
ENST00000464104.6:n.1787C>T
ENST00000467499.6:c.*548C>T ENSP00000498077.1:n.*548C>T
ENST00000494814.6:n.399C>T
ENST00000643789.1:c.3141C>T
ENST00000648146.1:c.987C>T ENSP00000497238.1:n.987C>T
ENST00000648332.1:c.526C>T ENSP00000497562.1:n.526C>T
ENST00000650005.1:c.778C>T ENSP00000498121.1:n.778C>T
ENST00000375262.3:c.699C>T ENSP00000364411.2:p.Ala233=
ENST00000375263.7:c.849C>T ENSP00000364412.3:p.Ala283=
ENST00000464104.5:n.702C>T
ENST00000467499.5:n.109C>T
ENST00000494814.5:n.408C>T
NM_000197.1:c.849C>T NP_000188.1:p.Ala283=
XM_005251970.3:c.489C>T XP_005252027.1:p.Ala163=
XM_011518618.1:c.849C>T XP_011516920.1:p.Ala283=
XM_011518619.1:c.849C>T XP_011516921.1:p.Ala283=
XM_011518620.1:c.741C>T XP_011516922.1:p.Ala247=
NM_000197.2:c.849C>T MANE Select NP_000188.1:p.Ala283=
XM_011518618.2:c.849C>T XP_011516920.1:p.Ala283=
XM_011518619.2:c.849C>T XP_011516921.1:p.Ala283=
XM_017014671.1:c.849C>T XP_016870160.1:p.Ala283=
XM_017014672.1:c.849C>T XP_016870161.1:p.Ala283=
XM_017014673.2:c.813C>T XP_016870162.1:p.Ala271=
XM_017014674.1:c.741C>T XP_016870163.1:p.Ala247=
XM_017014675.1:c.687C>T XP_016870164.1:p.Ala229=
XM_017014677.1:c.489C>T XP_016870166.1:p.Ala163=
XM_024447529.1:c.687C>T XP_024303297.1:p.Ala229=
XR_002956778.1:n.3321C>T