Canonical Allele Identifier: CA374123388

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99003188A>T (hg19) ; chr9:g.96240906A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240906A>T , CM000671.2:g.96240906A>T	GRCh38
NC_000009.11:g.99003188A>T , CM000671.1:g.99003188A>T	GRCh37
NC_000009.10:g.98043009A>T	NCBI36
NG_008157.1:g.66247T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.672+3423T>A	ENSP00000364411.2:n.672+3423T>A
ENST00000375263.8:c.674T>A MANE Select	ENSP00000364412.3:p.Val225Glu
ENST00000463517.2:n.2216T>A
ENST00000464104.6:n.1612T>A
ENST00000467499.6:c.*373T>A	ENSP00000498077.1:n.*373T>A
ENST00000484816.2:n.25T>A
ENST00000494814.6:n.224T>A
ENST00000643789.1:c.2966T>A
ENST00000648146.1:c.674T>A	ENSP00000497238.1:p.Val225Glu
ENST00000648332.1:c.351T>A	ENSP00000497562.1:n.351T>A
ENST00000648799.1:c.566T>A	ENSP00000498039.1:p.Val189Glu
ENST00000650005.1:c.603T>A	ENSP00000498121.1:n.603T>A
ENST00000375262.3:c.672+3423T>A	ENSP00000364411.2:n.672+3423T>A
ENST00000375263.7:c.674T>A	ENSP00000364412.3:p.Val225Glu
ENST00000464104.5:n.527T>A
ENST00000484816.1:n.24T>A
ENST00000494814.5:n.233T>A
NM_000197.1:c.674T>A	NP_000188.1:p.Val225Glu
XM_005251970.3:c.314T>A	XP_005252027.1:p.Val105Glu
XM_011518618.1:c.674T>A	XP_011516920.1:p.Val225Glu
XM_011518619.1:c.674T>A	XP_011516921.1:p.Val225Glu
XM_011518620.1:c.566T>A	XP_011516922.1:p.Val189Glu
XM_011518621.1:c.712T>A	XP_011516923.1:p.Cys238Ser
NM_000197.2:c.674T>A MANE Select	NP_000188.1:p.Val225Glu
XM_011518618.2:c.674T>A	XP_011516920.1:p.Val225Glu
XM_011518619.2:c.674T>A	XP_011516921.1:p.Val225Glu
XM_017014671.1:c.674T>A	XP_016870160.1:p.Val225Glu
XM_017014672.1:c.674T>A	XP_016870161.1:p.Val225Glu
XM_017014673.2:c.638T>A	XP_016870162.1:p.Val213Glu
XM_017014674.1:c.566T>A	XP_016870163.1:p.Val189Glu
XM_017014675.1:c.512T>A	XP_016870164.1:p.Val171Glu
XM_017014677.1:c.314T>A	XP_016870166.1:p.Val105Glu
XM_024447529.1:c.512T>A	XP_024303297.1:p.Val171Glu
XR_002956778.1:n.3146T>A