Canonical Allele Identifier: CA5140238

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2904190
• ClinVar RCV Id: RCV003729193
• dbSNP Id: rs552614077
• ExAC: 9:98997811 G / A
• gnomAD v2: 9-98997811-G-A
• gnomAD v3: 9-96235529-G-A
• gnomAD v4: 9-96235529-G-A
• MyVariant Identifiers: chr9:g.98997811G>A (hg19) ; chr9:g.96235529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235529G>A , CM000671.2:g.96235529G>A	GRCh38
NC_000009.11:g.98997811G>A , CM000671.1:g.98997811G>A	GRCh37
NC_000009.10:g.98037632G>A	NCBI36
NG_008157.1:g.71624C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.714C>T	ENSP00000364411.2:p.Ser238=
ENST00000375263.8:c.864C>T MANE Select	ENSP00000364412.3:p.Ser288=
ENST00000463517.2:n.2406C>T
ENST00000464104.6:n.1802C>T
ENST00000467499.6:c.*563C>T	ENSP00000498077.1:n.*563C>T
ENST00000494814.6:n.414C>T
ENST00000643789.1:c.3156C>T
ENST00000648146.1:c.1002C>T	ENSP00000497238.1:n.1002C>T
ENST00000648332.1:c.541C>T	ENSP00000497562.1:n.541C>T
ENST00000650005.1:c.793C>T	ENSP00000498121.1:n.793C>T
ENST00000375262.3:c.714C>T	ENSP00000364411.2:p.Ser238=
ENST00000375263.7:c.864C>T	ENSP00000364412.3:p.Ser288=
ENST00000464104.5:n.717C>T
ENST00000467499.5:n.124C>T
ENST00000494814.5:n.423C>T
NM_000197.1:c.864C>T	NP_000188.1:p.Ser288=
XM_005251970.3:c.504C>T	XP_005252027.1:p.Ser168=
XM_011518618.1:c.864C>T	XP_011516920.1:p.Ser288=
XM_011518619.1:c.864C>T	XP_011516921.1:p.Ser288=
XM_011518620.1:c.756C>T	XP_011516922.1:p.Ser252=
NM_000197.2:c.864C>T MANE Select	NP_000188.1:p.Ser288=
XM_011518618.2:c.864C>T	XP_011516920.1:p.Ser288=
XM_011518619.2:c.864C>T	XP_011516921.1:p.Ser288=
XM_017014671.1:c.864C>T	XP_016870160.1:p.Ser288=
XM_017014672.1:c.864C>T	XP_016870161.1:p.Ser288=
XM_017014673.2:c.828C>T	XP_016870162.1:p.Ser276=
XM_017014674.1:c.756C>T	XP_016870163.1:p.Ser252=
XM_017014675.1:c.702C>T	XP_016870164.1:p.Ser234=
XM_017014677.1:c.504C>T	XP_016870166.1:p.Ser168=
XM_024447529.1:c.702C>T	XP_024303297.1:p.Ser234=
XR_002956778.1:n.3336C>T