Canonical Allele Identifier: CA374125301
Gene: HSD17B3 HGNC NCBI
HSD17B3-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96251441G>T , CM000671.2:g.96251441G>T GRCh38
NC_000009.11:g.99013723G>T , CM000671.1:g.99013723G>T GRCh37
NC_000009.10:g.98053544G>T NCBI36
NG_008157.1:g.55712C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.430C>A (HSD17B3) ENSP00000364411.2:p.Leu144Met
ENST00000375263.8:c.430C>A (HSD17B3) MANE Select ENSP00000364412.3:p.Leu144Met
ENST00000463517.2:n.1239C>A
ENST00000464104.6:n.900C>A
ENST00000467499.6:c.*129C>A (HSD17B3) ENSP00000498077.1:n.*129C>A
ENST00000643789.1:c.2722C>A
ENST00000648146.1:c.430C>A (HSD17B3) ENSP00000497238.1:p.Leu144Met
ENST00000648332.1:c.202-6015C>A (HSD17B3) ENSP00000497562.1:n.202-6015C>A
ENST00000648799.1:c.322C>A (HSD17B3) ENSP00000498039.1:p.Leu108Met
ENST00000650005.1:c.430C>A (HSD17B3) ENSP00000498121.1:p.Leu144Met
ENST00000650386.1:c.430C>A (HSD17B3) ENSP00000497464.1:p.Leu144Met
ENST00000375262.3:c.430C>A (HSD17B3) ENSP00000364411.2:p.Leu144Met
ENST00000375263.7:c.430C>A (HSD17B3) ENSP00000364412.3:p.Leu144Met
ENST00000463517.1:n.187C>A (HSD17B3)
NM_000197.1:c.430C>A (HSD17B3) NP_000188.1:p.Leu144Met
XM_006717095.2:c.430C>A (HSD17B3) XP_006717158.1:p.Leu144Met
XM_011518618.1:c.430C>A (HSD17B3) XP_011516920.1:p.Leu144Met
XM_011518619.1:c.430C>A (HSD17B3) XP_011516921.1:p.Leu144Met
XM_011518620.1:c.322C>A (HSD17B3) XP_011516922.1:p.Leu108Met
XM_011518621.1:c.430C>A (HSD17B3) XP_011516923.1:p.Leu144Met
XR_930147.1:n.1288+4106G>T (HSD17B3-AS1)
XR_930148.1:n.1288+4106G>T (HSD17B3-AS1)
NM_000197.2:c.430C>A (HSD17B3) MANE Select NP_000188.1:p.Leu144Met
XM_011518618.2:c.430C>A (HSD17B3) XP_011516920.1:p.Leu144Met
XM_011518619.2:c.430C>A (HSD17B3) XP_011516921.1:p.Leu144Met
XM_017014671.1:c.430C>A (HSD17B3) XP_016870160.1:p.Leu144Met
XM_017014672.1:c.430C>A (HSD17B3) XP_016870161.1:p.Leu144Met
XM_017014673.2:c.430C>A (HSD17B3) XP_016870162.1:p.Leu144Met
XM_017014674.1:c.322C>A (HSD17B3) XP_016870163.1:p.Leu108Met
XM_017014675.1:c.268C>A (HSD17B3) XP_016870164.1:p.Leu90Met
XM_017014677.1:c.-507C>A (HSD17B3) XP_016870166.1:n.-507C>A
XM_024447529.1:c.268C>A (HSD17B3) XP_024303297.1:p.Leu90Met
XR_002956778.1:n.2864C>A (HSD17B3)