Canonical Allele Identifier: CA374121888

Gene: HSD17B3

Linked Data

• dbSNP Id: rs1392138806
• gnomAD v2: 9-98997818-A-G
• gnomAD v4: 9-96235536-A-G
• MyVariant Identifiers: chr9:g.98997818A>G (hg19) ; chr9:g.96235536A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235536A>G , CM000671.2:g.96235536A>G	GRCh38
NC_000009.11:g.98997818A>G , CM000671.1:g.98997818A>G	GRCh37
NC_000009.10:g.98037639A>G	NCBI36
NG_008157.1:g.71617T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.707T>C	ENSP00000364411.2:p.Phe236Ser
ENST00000375263.8:c.857T>C MANE Select	ENSP00000364412.3:p.Phe286Ser
ENST00000463517.2:n.2399T>C
ENST00000464104.6:n.1795T>C
ENST00000467499.6:c.*556T>C	ENSP00000498077.1:n.*556T>C
ENST00000494814.6:n.407T>C
ENST00000643789.1:c.3149T>C
ENST00000648146.1:c.995T>C	ENSP00000497238.1:n.995T>C
ENST00000648332.1:c.534T>C	ENSP00000497562.1:n.534T>C
ENST00000650005.1:c.786T>C	ENSP00000498121.1:n.786T>C
ENST00000375262.3:c.707T>C	ENSP00000364411.2:p.Phe236Ser
ENST00000375263.7:c.857T>C	ENSP00000364412.3:p.Phe286Ser
ENST00000464104.5:n.710T>C
ENST00000467499.5:n.117T>C
ENST00000494814.5:n.416T>C
NM_000197.1:c.857T>C	NP_000188.1:p.Phe286Ser
XM_005251970.3:c.497T>C	XP_005252027.1:p.Phe166Ser
XM_011518618.1:c.857T>C	XP_011516920.1:p.Phe286Ser
XM_011518619.1:c.857T>C	XP_011516921.1:p.Phe286Ser
XM_011518620.1:c.749T>C	XP_011516922.1:p.Phe250Ser
NM_000197.2:c.857T>C MANE Select	NP_000188.1:p.Phe286Ser
XM_011518618.2:c.857T>C	XP_011516920.1:p.Phe286Ser
XM_011518619.2:c.857T>C	XP_011516921.1:p.Phe286Ser
XM_017014671.1:c.857T>C	XP_016870160.1:p.Phe286Ser
XM_017014672.1:c.857T>C	XP_016870161.1:p.Phe286Ser
XM_017014673.2:c.821T>C	XP_016870162.1:p.Phe274Ser
XM_017014674.1:c.749T>C	XP_016870163.1:p.Phe250Ser
XM_017014675.1:c.695T>C	XP_016870164.1:p.Phe232Ser
XM_017014677.1:c.497T>C	XP_016870166.1:p.Phe166Ser
XM_024447529.1:c.695T>C	XP_024303297.1:p.Phe232Ser
XR_002956778.1:n.3329T>C