Canonical Allele Identifier: CA374123420

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006615A>T (hg19) ; chr9:g.96244333A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244333A>T , CM000671.2:g.96244333A>T	GRCh38
NC_000009.11:g.99006615A>T , CM000671.1:g.99006615A>T	GRCh37
NC_000009.10:g.98046436A>T	NCBI36
NG_008157.1:g.62820T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.668T>A	ENSP00000364411.2:p.Ile223Asn
ENST00000375263.8:c.668T>A MANE Select	ENSP00000364412.3:p.Ile223Asn
ENST00000463517.2:n.2210T>A
ENST00000464104.6:n.1606T>A
ENST00000467499.6:c.*367T>A	ENSP00000498077.1:n.*367T>A
ENST00000484816.2:n.19T>A
ENST00000494814.6:n.180T>A
ENST00000643789.1:c.2960T>A
ENST00000648146.1:c.668T>A	ENSP00000497238.1:p.Ile223Asn
ENST00000648332.1:c.345T>A	ENSP00000497562.1:n.345T>A
ENST00000648799.1:c.560T>A	ENSP00000498039.1:p.Ile187Asn
ENST00000650005.1:c.597T>A	ENSP00000498121.1:n.597T>A
ENST00000375262.3:c.668T>A	ENSP00000364411.2:p.Ile223Asn
ENST00000375263.7:c.668T>A	ENSP00000364412.3:p.Ile223Asn
ENST00000464104.5:n.521T>A
ENST00000484816.1:n.18T>A
ENST00000494814.5:n.189T>A
NM_000197.1:c.668T>A	NP_000188.1:p.Ile223Asn
XM_005251970.3:c.308T>A	XP_005252027.1:p.Ile103Asn
XM_011518618.1:c.668T>A	XP_011516920.1:p.Ile223Asn
XM_011518619.1:c.668T>A	XP_011516921.1:p.Ile223Asn
XM_011518620.1:c.560T>A	XP_011516922.1:p.Ile187Asn
XM_011518621.1:c.668T>A	XP_011516923.1:p.Ile223Asn
NM_000197.2:c.668T>A MANE Select	NP_000188.1:p.Ile223Asn
XM_011518618.2:c.668T>A	XP_011516920.1:p.Ile223Asn
XM_011518619.2:c.668T>A	XP_011516921.1:p.Ile223Asn
XM_017014671.1:c.668T>A	XP_016870160.1:p.Ile223Asn
XM_017014672.1:c.668T>A	XP_016870161.1:p.Ile223Asn
XM_017014673.2:c.632T>A	XP_016870162.1:p.Ile211Asn
XM_017014674.1:c.560T>A	XP_016870163.1:p.Ile187Asn
XM_017014675.1:c.506T>A	XP_016870164.1:p.Ile169Asn
XM_017014677.1:c.308T>A	XP_016870166.1:p.Ile103Asn
XM_024447529.1:c.506T>A	XP_024303297.1:p.Ile169Asn
XR_002956778.1:n.3102T>A