Canonical Allele Identifier: CA374123354

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99003171C>G (hg19) ; chr9:g.96240889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240889C>G , CM000671.2:g.96240889C>G	GRCh38
NC_000009.11:g.99003171C>G , CM000671.1:g.99003171C>G	GRCh37
NC_000009.10:g.98042992C>G	NCBI36
NG_008157.1:g.66264G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3440G>C	ENSP00000364411.2:n.672+3440G>C
ENST00000375263.8:c.691G>C MANE Select	ENSP00000364412.3:p.Val231Leu
ENST00000463517.2:n.2233G>C
ENST00000464104.6:n.1629G>C
ENST00000467499.6:c.*390G>C	ENSP00000498077.1:n.*390G>C
ENST00000484816.2:n.42G>C
ENST00000494814.6:n.241G>C
ENST00000643789.1:c.2983G>C
ENST00000648146.1:c.691G>C	ENSP00000497238.1:p.Val231Leu
ENST00000648332.1:c.368G>C	ENSP00000497562.1:n.368G>C
ENST00000648799.1:c.583G>C	ENSP00000498039.1:p.Val195Leu
ENST00000650005.1:c.620G>C	ENSP00000498121.1:n.620G>C
ENST00000375262.3:c.672+3440G>C	ENSP00000364411.2:n.672+3440G>C
ENST00000375263.7:c.691G>C	ENSP00000364412.3:p.Val231Leu
ENST00000464104.5:n.544G>C
ENST00000484816.1:n.41G>C
ENST00000494814.5:n.250G>C
NM_000197.1:c.691G>C	NP_000188.1:p.Val231Leu
XM_005251970.3:c.331G>C	XP_005252027.1:p.Val111Leu
XM_011518618.1:c.691G>C	XP_011516920.1:p.Val231Leu
XM_011518619.1:c.691G>C	XP_011516921.1:p.Val231Leu
XM_011518620.1:c.583G>C	XP_011516922.1:p.Val195Leu
XM_011518621.1:c.*12G>C	XP_011516923.1:n.*12G>C
NM_000197.2:c.691G>C MANE Select	NP_000188.1:p.Val231Leu
XM_011518618.2:c.691G>C	XP_011516920.1:p.Val231Leu
XM_011518619.2:c.691G>C	XP_011516921.1:p.Val231Leu
XM_017014671.1:c.691G>C	XP_016870160.1:p.Val231Leu
XM_017014672.1:c.691G>C	XP_016870161.1:p.Val231Leu
XM_017014673.2:c.655G>C	XP_016870162.1:p.Val219Leu
XM_017014674.1:c.583G>C	XP_016870163.1:p.Val195Leu
XM_017014675.1:c.529G>C	XP_016870164.1:p.Val177Leu
XM_017014677.1:c.331G>C	XP_016870166.1:p.Val111Leu
XM_024447529.1:c.529G>C	XP_024303297.1:p.Val177Leu
XR_002956778.1:n.3163G>C