Canonical Allele Identifier: CA5140327
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs119481076
gnomAD v2: 9-99006675-G-T
gnomAD v4: 9-96244393-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96244393G>T , CM000671.2:g.96244393G>T GRCh38
NC_000009.11:g.99006675G>T , CM000671.1:g.99006675G>T GRCh37
NC_000009.10:g.98046496G>T NCBI36
NG_008157.1:g.62760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.608C>A ENSP00000364411.2:p.Ala203Glu
ENST00000375263.8:c.608C>A MANE Select ENSP00000364412.3:p.Ala203Glu
ENST00000463517.2:n.2150C>A
ENST00000464104.6:n.1546C>A
ENST00000467499.6:c.*307C>A ENSP00000498077.1:n.*307C>A
ENST00000494814.6:n.120C>A
ENST00000643789.1:c.2900C>A
ENST00000648146.1:c.608C>A ENSP00000497238.1:p.Ala203Glu
ENST00000648332.1:c.285C>A ENSP00000497562.1:p.Gly95=
ENST00000648799.1:c.500C>A ENSP00000498039.1:p.Ala167Glu
ENST00000650005.1:c.537C>A ENSP00000498121.1:p.Gly179=
ENST00000375262.3:c.608C>A ENSP00000364411.2:p.Ala203Glu
ENST00000375263.7:c.608C>A ENSP00000364412.3:p.Ala203Glu
ENST00000464104.5:n.461C>A
ENST00000494814.5:n.129C>A
NM_000197.1:c.608C>A NP_000188.1:p.Ala203Glu
XM_005251970.3:c.248C>A XP_005252027.1:p.Ala83Glu
XM_011518618.1:c.608C>A XP_011516920.1:p.Ala203Glu
XM_011518619.1:c.608C>A XP_011516921.1:p.Ala203Glu
XM_011518620.1:c.500C>A XP_011516922.1:p.Ala167Glu
XM_011518621.1:c.608C>A XP_011516923.1:p.Ala203Glu
NM_000197.2:c.608C>A MANE Select NP_000188.1:p.Ala203Glu
XM_011518618.2:c.608C>A XP_011516920.1:p.Ala203Glu
XM_011518619.2:c.608C>A XP_011516921.1:p.Ala203Glu
XM_017014671.1:c.608C>A XP_016870160.1:p.Ala203Glu
XM_017014672.1:c.608C>A XP_016870161.1:p.Ala203Glu
XM_017014673.2:c.572C>A XP_016870162.1:p.Ala191Glu
XM_017014674.1:c.500C>A XP_016870163.1:p.Ala167Glu
XM_017014675.1:c.446C>A XP_016870164.1:p.Ala149Glu
XM_017014677.1:c.248C>A XP_016870166.1:p.Ala83Glu
XM_024447529.1:c.446C>A XP_024303297.1:p.Ala149Glu
XR_002956778.1:n.3042C>A