Canonical Allele Identifier: CA374121579

Gene: HSD17B3

Linked Data

• gnomAD v4: 9-96235479-A-C
• MyVariant Identifiers: chr9:g.98997761A>C (hg19) ; chr9:g.96235479A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235479A>C , CM000671.2:g.96235479A>C	GRCh38
NC_000009.11:g.98997761A>C , CM000671.1:g.98997761A>C	GRCh37
NC_000009.10:g.98037582A>C	NCBI36
NG_008157.1:g.71674T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.764T>G	ENSP00000364411.2:p.Leu255Arg
ENST00000375263.8:c.914T>G MANE Select	ENSP00000364412.3:p.Leu305Arg
ENST00000463517.2:n.2456T>G
ENST00000464104.6:n.1852T>G
ENST00000467499.6:c.*613T>G	ENSP00000498077.1:n.*613T>G
ENST00000494814.6:n.464T>G
ENST00000643789.1:c.3206T>G
ENST00000648146.1:c.1052T>G	ENSP00000497238.1:n.1052T>G
ENST00000648332.1:c.591T>G	ENSP00000497562.1:n.591T>G
ENST00000650005.1:c.843T>G	ENSP00000498121.1:n.843T>G
ENST00000375262.3:c.764T>G	ENSP00000364411.2:p.Leu255Arg
ENST00000375263.7:c.914T>G	ENSP00000364412.3:p.Leu305Arg
ENST00000464104.5:n.767T>G
ENST00000467499.5:n.174T>G
ENST00000494814.5:n.473T>G
NM_000197.1:c.914T>G	NP_000188.1:p.Leu305Arg
XM_005251970.3:c.554T>G	XP_005252027.1:p.Leu185Arg
XM_011518618.1:c.914T>G	XP_011516920.1:p.Leu305Arg
XM_011518619.1:c.914T>G	XP_011516921.1:p.Leu305Arg
XM_011518620.1:c.806T>G	XP_011516922.1:p.Leu269Arg
NM_000197.2:c.914T>G MANE Select	NP_000188.1:p.Leu305Arg
XM_011518618.2:c.914T>G	XP_011516920.1:p.Leu305Arg
XM_011518619.2:c.914T>G	XP_011516921.1:p.Leu305Arg
XM_017014671.1:c.914T>G	XP_016870160.1:p.Leu305Arg
XM_017014672.1:c.914T>G	XP_016870161.1:p.Leu305Arg
XM_017014673.2:c.878T>G	XP_016870162.1:p.Leu293Arg
XM_017014674.1:c.806T>G	XP_016870163.1:p.Leu269Arg
XM_017014675.1:c.752T>G	XP_016870164.1:p.Leu251Arg
XM_017014677.1:c.554T>G	XP_016870166.1:p.Leu185Arg
XM_024447529.1:c.752T>G	XP_024303297.1:p.Leu251Arg
XR_002956778.1:n.3386T>G