Canonical Allele Identifier: CA5140244

Gene: HSD17B3

Linked Data

• ClinVar Variation Id: 2803912
• ClinVar RCV Id: RCV003681767
• dbSNP Id: rs758698178
• ExAC: 9:98997844 A / G
• gnomAD v2: 9-98997844-A-G
• gnomAD v4: 9-96235562-A-G
• MyVariant Identifiers: chr9:g.98997844A>G (hg19) ; chr9:g.96235562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235562A>G , CM000671.2:g.96235562A>G	GRCh38
NC_000009.11:g.98997844A>G , CM000671.1:g.98997844A>G	GRCh37
NC_000009.10:g.98037665A>G	NCBI36
NG_008157.1:g.71591T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.681T>C	ENSP00000364411.2:p.Phe227=
ENST00000375263.8:c.831T>C MANE Select	ENSP00000364412.3:p.Phe277=
ENST00000463517.2:n.2373T>C
ENST00000464104.6:n.1769T>C
ENST00000467499.6:c.*530T>C	ENSP00000498077.1:n.*530T>C
ENST00000494814.6:n.381T>C
ENST00000643789.1:c.3123T>C
ENST00000648146.1:c.969T>C	ENSP00000497238.1:n.969T>C
ENST00000648332.1:c.508T>C	ENSP00000497562.1:n.508T>C
ENST00000648799.1:c.723T>C	ENSP00000498039.1:p.Phe241=
ENST00000650005.1:c.760T>C	ENSP00000498121.1:n.760T>C
ENST00000375262.3:c.681T>C	ENSP00000364411.2:p.Phe227=
ENST00000375263.7:c.831T>C	ENSP00000364412.3:p.Phe277=
ENST00000464104.5:n.684T>C
ENST00000467499.5:n.91T>C
ENST00000494814.5:n.390T>C
NM_000197.1:c.831T>C	NP_000188.1:p.Phe277=
XM_005251970.3:c.471T>C	XP_005252027.1:p.Phe157=
XM_011518618.1:c.831T>C	XP_011516920.1:p.Phe277=
XM_011518619.1:c.831T>C	XP_011516921.1:p.Phe277=
XM_011518620.1:c.723T>C	XP_011516922.1:p.Phe241=
NM_000197.2:c.831T>C MANE Select	NP_000188.1:p.Phe277=
XM_011518618.2:c.831T>C	XP_011516920.1:p.Phe277=
XM_011518619.2:c.831T>C	XP_011516921.1:p.Phe277=
XM_017014671.1:c.831T>C	XP_016870160.1:p.Phe277=
XM_017014672.1:c.831T>C	XP_016870161.1:p.Phe277=
XM_017014673.2:c.795T>C	XP_016870162.1:p.Phe265=
XM_017014674.1:c.723T>C	XP_016870163.1:p.Phe241=
XM_017014675.1:c.669T>C	XP_016870164.1:p.Phe223=
XM_017014677.1:c.471T>C	XP_016870166.1:p.Phe157=
XM_024447529.1:c.669T>C	XP_024303297.1:p.Phe223=
XR_002956778.1:n.3303T>C