Canonical Allele Identifier: CA196614046
Gene: HSD17B3 HGNC NCBI

Linked Data

dbSNP Id: rs972689422
gnomAD v3: 9-96241054-G-C
gnomAD v4: 9-96241054-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96241054G>C , CM000671.2:g.96241054G>C GRCh38
NC_000009.11:g.99003336G>C , CM000671.1:g.99003336G>C GRCh37
NC_000009.10:g.98043157G>C NCBI36
NG_008157.1:g.66099C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.672+3275C>G ENSP00000364411.2:n.672+3275C>G
ENST00000375263.8:c.673-147C>G MANE Select ENSP00000364412.3:n.673-147C>G
ENST00000463517.2:n.2215-147C>G
ENST00000464104.6:n.1611-147C>G
ENST00000467499.6:c.*372-147C>G ENSP00000498077.1:n.*372-147C>G
ENST00000484816.2:n.24-147C>G
ENST00000494814.6:n.223-147C>G
ENST00000643789.1:c.2965-147C>G
ENST00000648146.1:c.673-147C>G ENSP00000497238.1:n.673-147C>G
ENST00000648332.1:c.350-147C>G ENSP00000497562.1:n.350-147C>G
ENST00000648799.1:c.565-147C>G ENSP00000498039.1:n.565-147C>G
ENST00000650005.1:c.602-147C>G ENSP00000498121.1:n.602-147C>G
ENST00000375262.3:c.672+3275C>G ENSP00000364411.2:n.672+3275C>G
ENST00000375263.7:c.673-147C>G ENSP00000364412.3:n.673-147C>G
ENST00000464104.5:n.526-147C>G
ENST00000484816.1:n.23-147C>G
ENST00000494814.5:n.232-147C>G
NM_000197.1:c.673-147C>G NP_000188.1:n.673-147C>G
XM_005251970.3:c.313-147C>G XP_005252027.1:n.313-147C>G
XM_011518618.1:c.673-147C>G XP_011516920.1:n.673-147C>G
XM_011518619.1:c.673-147C>G XP_011516921.1:n.673-147C>G
XM_011518620.1:c.565-147C>G XP_011516922.1:n.565-147C>G
XM_011518621.1:c.711-147C>G XP_011516923.1:n.711-147C>G
NM_000197.2:c.673-147C>G MANE Select NP_000188.1:n.673-147C>G
XM_011518618.2:c.673-147C>G XP_011516920.1:n.673-147C>G
XM_011518619.2:c.673-147C>G XP_011516921.1:n.673-147C>G
XM_017014671.1:c.673-147C>G XP_016870160.1:n.673-147C>G
XM_017014672.1:c.673-147C>G XP_016870161.1:n.673-147C>G
XM_017014673.2:c.637-147C>G XP_016870162.1:n.637-147C>G
XM_017014674.1:c.565-147C>G XP_016870163.1:n.565-147C>G
XM_017014675.1:c.511-147C>G XP_016870164.1:n.511-147C>G
XM_017014677.1:c.313-147C>G XP_016870166.1:n.313-147C>G
XM_024447529.1:c.511-147C>G XP_024303297.1:n.511-147C>G
XR_002956778.1:n.3145-147C>G