Canonical Allele Identifier: CA5140232

Gene: HSD17B3

Linked Data

• dbSNP Id: rs747590637
• ExAC: 9:98997785 G / A
• gnomAD v2: 9-98997785-G-A
• gnomAD v3: 9-96235503-G-A
• gnomAD v4: 9-96235503-G-A
• MyVariant Identifiers: chr9:g.98997785G>A (hg19) ; chr9:g.96235503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235503G>A , CM000671.2:g.96235503G>A	GRCh38
NC_000009.11:g.98997785G>A , CM000671.1:g.98997785G>A	GRCh37
NC_000009.10:g.98037606G>A	NCBI36
NG_008157.1:g.71650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.740C>T	ENSP00000364411.2:p.Thr247Ile
ENST00000375263.8:c.890C>T MANE Select	ENSP00000364412.3:p.Thr297Ile
ENST00000463517.2:n.2432C>T
ENST00000464104.6:n.1828C>T
ENST00000467499.6:c.*589C>T	ENSP00000498077.1:n.*589C>T
ENST00000494814.6:n.440C>T
ENST00000643789.1:c.3182C>T
ENST00000648146.1:c.1028C>T	ENSP00000497238.1:n.1028C>T
ENST00000648332.1:c.567C>T	ENSP00000497562.1:n.567C>T
ENST00000650005.1:c.819C>T	ENSP00000498121.1:n.819C>T
ENST00000375262.3:c.740C>T	ENSP00000364411.2:p.Thr247Ile
ENST00000375263.7:c.890C>T	ENSP00000364412.3:p.Thr297Ile
ENST00000464104.5:n.743C>T
ENST00000467499.5:n.150C>T
ENST00000494814.5:n.449C>T
NM_000197.1:c.890C>T	NP_000188.1:p.Thr297Ile
XM_005251970.3:c.530C>T	XP_005252027.1:p.Thr177Ile
XM_011518618.1:c.890C>T	XP_011516920.1:p.Thr297Ile
XM_011518619.1:c.890C>T	XP_011516921.1:p.Thr297Ile
XM_011518620.1:c.782C>T	XP_011516922.1:p.Thr261Ile
NM_000197.2:c.890C>T MANE Select	NP_000188.1:p.Thr297Ile
XM_011518618.2:c.890C>T	XP_011516920.1:p.Thr297Ile
XM_011518619.2:c.890C>T	XP_011516921.1:p.Thr297Ile
XM_017014671.1:c.890C>T	XP_016870160.1:p.Thr297Ile
XM_017014672.1:c.890C>T	XP_016870161.1:p.Thr297Ile
XM_017014673.2:c.854C>T	XP_016870162.1:p.Thr285Ile
XM_017014674.1:c.782C>T	XP_016870163.1:p.Thr261Ile
XM_017014675.1:c.728C>T	XP_016870164.1:p.Thr243Ile
XM_017014677.1:c.530C>T	XP_016870166.1:p.Thr177Ile
XM_024447529.1:c.728C>T	XP_024303297.1:p.Thr243Ile
XR_002956778.1:n.3362C>T