Canonical Allele Identifier: CA5140242

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2783380
• ClinVar RCV Id: RCV003666023
• dbSNP Id: rs765426822
• ExAC: 9:98997835 C / T
• gnomAD v2: 9-98997835-C-T
• gnomAD v4: 9-96235553-C-T
• MyVariant Identifiers: chr9:g.98997835C>T (hg19) ; chr9:g.96235553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235553C>T , CM000671.2:g.96235553C>T	GRCh38
NC_000009.11:g.98997835C>T , CM000671.1:g.98997835C>T	GRCh37
NC_000009.10:g.98037656C>T	NCBI36
NG_008157.1:g.71600G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.690G>A	ENSP00000364411.2:p.Leu230=
ENST00000375263.8:c.840G>A MANE Select	ENSP00000364412.3:p.Leu280=
ENST00000463517.2:n.2382G>A
ENST00000464104.6:n.1778G>A
ENST00000467499.6:c.*539G>A	ENSP00000498077.1:n.*539G>A
ENST00000494814.6:n.390G>A
ENST00000643789.1:c.3132G>A
ENST00000648146.1:c.978G>A	ENSP00000497238.1:n.978G>A
ENST00000648332.1:c.517G>A	ENSP00000497562.1:n.517G>A
ENST00000648799.1:c.732G>A	ENSP00000498039.1:p.Leu244=
ENST00000650005.1:c.769G>A	ENSP00000498121.1:n.769G>A
ENST00000375262.3:c.690G>A	ENSP00000364411.2:p.Leu230=
ENST00000375263.7:c.840G>A	ENSP00000364412.3:p.Leu280=
ENST00000464104.5:n.693G>A
ENST00000467499.5:n.100G>A
ENST00000494814.5:n.399G>A
NM_000197.1:c.840G>A	NP_000188.1:p.Leu280=
XM_005251970.3:c.480G>A	XP_005252027.1:p.Leu160=
XM_011518618.1:c.840G>A	XP_011516920.1:p.Leu280=
XM_011518619.1:c.840G>A	XP_011516921.1:p.Leu280=
XM_011518620.1:c.732G>A	XP_011516922.1:p.Leu244=
NM_000197.2:c.840G>A MANE Select	NP_000188.1:p.Leu280=
XM_011518618.2:c.840G>A	XP_011516920.1:p.Leu280=
XM_011518619.2:c.840G>A	XP_011516921.1:p.Leu280=
XM_017014671.1:c.840G>A	XP_016870160.1:p.Leu280=
XM_017014672.1:c.840G>A	XP_016870161.1:p.Leu280=
XM_017014673.2:c.804G>A	XP_016870162.1:p.Leu268=
XM_017014674.1:c.732G>A	XP_016870163.1:p.Leu244=
XM_017014675.1:c.678G>A	XP_016870164.1:p.Leu226=
XM_017014677.1:c.480G>A	XP_016870166.1:p.Leu160=
XM_024447529.1:c.678G>A	XP_024303297.1:p.Leu226=
XR_002956778.1:n.3312G>A