Canonical Allele Identifier: CA2690816460
Gene: HSD17B3 HGNC NCBI

Linked Data

gnomAD v4: 9-96241038-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96241038A>T , CM000671.2:g.96241038A>T GRCh38
NC_000009.11:g.99003320A>T , CM000671.1:g.99003320A>T GRCh37
NC_000009.10:g.98043141A>T NCBI36
NG_008157.1:g.66115T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.672+3291T>A ENSP00000364411.2:n.672+3291T>A
ENST00000375263.8:c.673-131T>A MANE Select ENSP00000364412.3:n.673-131T>A
ENST00000463517.2:n.2215-131T>A
ENST00000464104.6:n.1611-131T>A
ENST00000467499.6:c.*372-131T>A ENSP00000498077.1:n.*372-131T>A
ENST00000484816.2:n.24-131T>A
ENST00000494814.6:n.223-131T>A
ENST00000643789.1:c.2965-131T>A
ENST00000648146.1:c.673-131T>A ENSP00000497238.1:n.673-131T>A
ENST00000648332.1:c.350-131T>A ENSP00000497562.1:n.350-131T>A
ENST00000648799.1:c.565-131T>A ENSP00000498039.1:n.565-131T>A
ENST00000650005.1:c.602-131T>A ENSP00000498121.1:n.602-131T>A
ENST00000375262.3:c.672+3291T>A ENSP00000364411.2:n.672+3291T>A
ENST00000375263.7:c.673-131T>A ENSP00000364412.3:n.673-131T>A
ENST00000464104.5:n.526-131T>A
ENST00000484816.1:n.23-131T>A
ENST00000494814.5:n.232-131T>A
NM_000197.1:c.673-131T>A NP_000188.1:n.673-131T>A
XM_005251970.3:c.313-131T>A XP_005252027.1:n.313-131T>A
XM_011518618.1:c.673-131T>A XP_011516920.1:n.673-131T>A
XM_011518619.1:c.673-131T>A XP_011516921.1:n.673-131T>A
XM_011518620.1:c.565-131T>A XP_011516922.1:n.565-131T>A
XM_011518621.1:c.711-131T>A XP_011516923.1:n.711-131T>A
NM_000197.2:c.673-131T>A MANE Select NP_000188.1:n.673-131T>A
XM_011518618.2:c.673-131T>A XP_011516920.1:n.673-131T>A
XM_011518619.2:c.673-131T>A XP_011516921.1:n.673-131T>A
XM_017014671.1:c.673-131T>A XP_016870160.1:n.673-131T>A
XM_017014672.1:c.673-131T>A XP_016870161.1:n.673-131T>A
XM_017014673.2:c.637-131T>A XP_016870162.1:n.637-131T>A
XM_017014674.1:c.565-131T>A XP_016870163.1:n.565-131T>A
XM_017014675.1:c.511-131T>A XP_016870164.1:n.511-131T>A
XM_017014677.1:c.313-131T>A XP_016870166.1:n.313-131T>A
XM_024447529.1:c.511-131T>A XP_024303297.1:n.511-131T>A
XR_002956778.1:n.3145-131T>A