Canonical Allele Identifier: CA466129578
Gene: HSD17B3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.98997784T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.96235502T>G , CM000671.2:g.96235502T>G GRCh38
NC_000009.11:g.98997784T>G , CM000671.1:g.98997784T>G GRCh37
NC_000009.10:g.98037605T>G NCBI36
NG_008157.1:g.71651A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375262.4:c.741A>C ENSP00000364411.2:p.Thr247=
ENST00000375263.8:c.891A>C MANE Select ENSP00000364412.3:p.Thr297=
ENST00000463517.2:n.2433A>C
ENST00000464104.6:n.1829A>C
ENST00000467499.6:c.*590A>C ENSP00000498077.1:n.*590A>C
ENST00000494814.6:n.441A>C
ENST00000643789.1:c.3183A>C
ENST00000648146.1:c.1029A>C ENSP00000497238.1:n.1029A>C
ENST00000648332.1:c.568A>C ENSP00000497562.1:n.568A>C
ENST00000650005.1:c.820A>C ENSP00000498121.1:n.820A>C
ENST00000375262.3:c.741A>C ENSP00000364411.2:p.Thr247=
ENST00000375263.7:c.891A>C ENSP00000364412.3:p.Thr297=
ENST00000464104.5:n.744A>C
ENST00000467499.5:n.151A>C
ENST00000494814.5:n.450A>C
NM_000197.1:c.891A>C NP_000188.1:p.Thr297=
XM_005251970.3:c.531A>C XP_005252027.1:p.Thr177=
XM_011518618.1:c.891A>C XP_011516920.1:p.Thr297=
XM_011518619.1:c.891A>C XP_011516921.1:p.Thr297=
XM_011518620.1:c.783A>C XP_011516922.1:p.Thr261=
NM_000197.2:c.891A>C MANE Select NP_000188.1:p.Thr297=
XM_011518618.2:c.891A>C XP_011516920.1:p.Thr297=
XM_011518619.2:c.891A>C XP_011516921.1:p.Thr297=
XM_017014671.1:c.891A>C XP_016870160.1:p.Thr297=
XM_017014672.1:c.891A>C XP_016870161.1:p.Thr297=
XM_017014673.2:c.855A>C XP_016870162.1:p.Thr285=
XM_017014674.1:c.783A>C XP_016870163.1:p.Thr261=
XM_017014675.1:c.729A>C XP_016870164.1:p.Thr243=
XM_017014677.1:c.531A>C XP_016870166.1:p.Thr177=
XM_024447529.1:c.729A>C XP_024303297.1:p.Thr243=
XR_002956778.1:n.3363A>C