Canonical Allele Identifier: CA5140284

Gene: HSD17B3

Linked Data

• dbSNP Id: rs774389714
• ExAC: 9:99003170 A / G
• gnomAD v2: 9-99003170-A-G
• gnomAD v4: 9-96240888-A-G
• MyVariant Identifiers: chr9:g.99003170A>G (hg19) ; chr9:g.96240888A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240888A>G , CM000671.2:g.96240888A>G	GRCh38
NC_000009.11:g.99003170A>G , CM000671.1:g.99003170A>G	GRCh37
NC_000009.10:g.98042991A>G	NCBI36
NG_008157.1:g.66265T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3441T>C	ENSP00000364411.2:n.672+3441T>C
ENST00000375263.8:c.692T>C MANE Select	ENSP00000364412.3:p.Val231Ala
ENST00000463517.2:n.2234T>C
ENST00000464104.6:n.1630T>C
ENST00000467499.6:c.*391T>C	ENSP00000498077.1:n.*391T>C
ENST00000484816.2:n.43T>C
ENST00000494814.6:n.242T>C
ENST00000643789.1:c.2984T>C
ENST00000648146.1:c.692T>C	ENSP00000497238.1:p.Val231Ala
ENST00000648332.1:c.369T>C	ENSP00000497562.1:n.369T>C
ENST00000648799.1:c.584T>C	ENSP00000498039.1:p.Val195Ala
ENST00000650005.1:c.621T>C	ENSP00000498121.1:n.621T>C
ENST00000375262.3:c.672+3441T>C	ENSP00000364411.2:n.672+3441T>C
ENST00000375263.7:c.692T>C	ENSP00000364412.3:p.Val231Ala
ENST00000464104.5:n.545T>C
ENST00000484816.1:n.42T>C
ENST00000494814.5:n.251T>C
NM_000197.1:c.692T>C	NP_000188.1:p.Val231Ala
XM_005251970.3:c.332T>C	XP_005252027.1:p.Val111Ala
XM_011518618.1:c.692T>C	XP_011516920.1:p.Val231Ala
XM_011518619.1:c.692T>C	XP_011516921.1:p.Val231Ala
XM_011518620.1:c.584T>C	XP_011516922.1:p.Val195Ala
XM_011518621.1:c.*13T>C	XP_011516923.1:n.*13T>C
NM_000197.2:c.692T>C MANE Select	NP_000188.1:p.Val231Ala
XM_011518618.2:c.692T>C	XP_011516920.1:p.Val231Ala
XM_011518619.2:c.692T>C	XP_011516921.1:p.Val231Ala
XM_017014671.1:c.692T>C	XP_016870160.1:p.Val231Ala
XM_017014672.1:c.692T>C	XP_016870161.1:p.Val231Ala
XM_017014673.2:c.656T>C	XP_016870162.1:p.Val219Ala
XM_017014674.1:c.584T>C	XP_016870163.1:p.Val195Ala
XM_017014675.1:c.530T>C	XP_016870164.1:p.Val177Ala
XM_017014677.1:c.332T>C	XP_016870166.1:p.Val111Ala
XM_024447529.1:c.530T>C	XP_024303297.1:p.Val177Ala
XR_002956778.1:n.3164T>C