Canonical Allele Identifier: CA374121849

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1436951185
• gnomAD v2: 9-98997809-C-T
• gnomAD v4: 9-96235527-C-T
• MyVariant Identifiers: chr9:g.98997809C>T (hg19) ; chr9:g.96235527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235527C>T , CM000671.2:g.96235527C>T	GRCh38
NC_000009.11:g.98997809C>T , CM000671.1:g.98997809C>T	GRCh37
NC_000009.10:g.98037630C>T	NCBI36
NG_008157.1:g.71626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.716G>A	ENSP00000364411.2:p.Gly239Asp
ENST00000375263.8:c.866G>A MANE Select	ENSP00000364412.3:p.Gly289Asp
ENST00000463517.2:n.2408G>A
ENST00000464104.6:n.1804G>A
ENST00000467499.6:c.*565G>A	ENSP00000498077.1:n.*565G>A
ENST00000494814.6:n.416G>A
ENST00000643789.1:c.3158G>A
ENST00000648146.1:c.1004G>A	ENSP00000497238.1:n.1004G>A
ENST00000648332.1:c.543G>A	ENSP00000497562.1:n.543G>A
ENST00000650005.1:c.795G>A	ENSP00000498121.1:n.795G>A
ENST00000375262.3:c.716G>A	ENSP00000364411.2:p.Gly239Asp
ENST00000375263.7:c.866G>A	ENSP00000364412.3:p.Gly289Asp
ENST00000464104.5:n.719G>A
ENST00000467499.5:n.126G>A
ENST00000494814.5:n.425G>A
NM_000197.1:c.866G>A	NP_000188.1:p.Gly289Asp
XM_005251970.3:c.506G>A	XP_005252027.1:p.Gly169Asp
XM_011518618.1:c.866G>A	XP_011516920.1:p.Gly289Asp
XM_011518619.1:c.866G>A	XP_011516921.1:p.Gly289Asp
XM_011518620.1:c.758G>A	XP_011516922.1:p.Gly253Asp
NM_000197.2:c.866G>A MANE Select	NP_000188.1:p.Gly289Asp
XM_011518618.2:c.866G>A	XP_011516920.1:p.Gly289Asp
XM_011518619.2:c.866G>A	XP_011516921.1:p.Gly289Asp
XM_017014671.1:c.866G>A	XP_016870160.1:p.Gly289Asp
XM_017014672.1:c.866G>A	XP_016870161.1:p.Gly289Asp
XM_017014673.2:c.830G>A	XP_016870162.1:p.Gly277Asp
XM_017014674.1:c.758G>A	XP_016870163.1:p.Gly253Asp
XM_017014675.1:c.704G>A	XP_016870164.1:p.Gly235Asp
XM_017014677.1:c.506G>A	XP_016870166.1:p.Gly169Asp
XM_024447529.1:c.704G>A	XP_024303297.1:p.Gly235Asp
XR_002956778.1:n.3338G>A