Canonical Allele Identifier: CA374121569
Gene: HSD17B3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235476T>G , CM000671.2:g.96235476T>G GRCh38
NC_000009.11:g.98997758T>G , CM000671.1:g.98997758T>G GRCh37
NC_000009.10:g.98037579T>G NCBI36
NG_008157.1:g.71677A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.767A>C ENSP00000364411.2:p.Asn256Thr
ENST00000375263.8:c.917A>C MANE Select ENSP00000364412.3:p.Asn306Thr
ENST00000463517.2:n.2459A>C
ENST00000464104.6:n.1855A>C
ENST00000467499.6:c.*616A>C ENSP00000498077.1:n.*616A>C
ENST00000494814.6:n.467A>C
ENST00000643789.1:c.3209A>C
ENST00000648146.1:c.1055A>C ENSP00000497238.1:n.1055A>C
ENST00000648332.1:c.594A>C ENSP00000497562.1:n.594A>C
ENST00000650005.1:c.846A>C ENSP00000498121.1:n.846A>C
ENST00000375262.3:c.767A>C ENSP00000364411.2:p.Asn256Thr
ENST00000375263.7:c.917A>C ENSP00000364412.3:p.Asn306Thr
ENST00000464104.5:n.770A>C
ENST00000467499.5:n.177A>C
ENST00000494814.5:n.476A>C
NM_000197.1:c.917A>C NP_000188.1:p.Asn306Thr
XM_005251970.3:c.557A>C XP_005252027.1:p.Asn186Thr
XM_011518618.1:c.917A>C XP_011516920.1:p.Asn306Thr
XM_011518619.1:c.917A>C XP_011516921.1:p.Asn306Thr
XM_011518620.1:c.809A>C XP_011516922.1:p.Asn270Thr
NM_000197.2:c.917A>C MANE Select NP_000188.1:p.Asn306Thr
XM_011518618.2:c.917A>C XP_011516920.1:p.Asn306Thr
XM_011518619.2:c.917A>C XP_011516921.1:p.Asn306Thr
XM_017014671.1:c.917A>C XP_016870160.1:p.Asn306Thr
XM_017014672.1:c.917A>C XP_016870161.1:p.Asn306Thr
XM_017014673.2:c.881A>C XP_016870162.1:p.Asn294Thr
XM_017014674.1:c.809A>C XP_016870163.1:p.Asn270Thr
XM_017014675.1:c.755A>C XP_016870164.1:p.Asn252Thr
XM_017014677.1:c.557A>C XP_016870166.1:p.Asn186Thr
XM_024447529.1:c.755A>C XP_024303297.1:p.Asn252Thr
XR_002956778.1:n.3389A>C