Canonical Allele Identifier: CA374121620

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997771A>T (hg19) ; chr9:g.96235489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235489A>T , CM000671.2:g.96235489A>T	GRCh38
NC_000009.11:g.98997771A>T , CM000671.1:g.98997771A>T	GRCh37
NC_000009.10:g.98037592A>T	NCBI36
NG_008157.1:g.71664T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.754T>A	ENSP00000364411.2:p.Tyr252Asn
ENST00000375263.8:c.904T>A MANE Select	ENSP00000364412.3:p.Tyr302Asn
ENST00000463517.2:n.2446T>A
ENST00000464104.6:n.1842T>A
ENST00000467499.6:c.*603T>A	ENSP00000498077.1:n.*603T>A
ENST00000494814.6:n.454T>A
ENST00000643789.1:c.3196T>A
ENST00000648146.1:c.1042T>A	ENSP00000497238.1:n.1042T>A
ENST00000648332.1:c.581T>A	ENSP00000497562.1:n.581T>A
ENST00000650005.1:c.833T>A	ENSP00000498121.1:n.833T>A
ENST00000375262.3:c.754T>A	ENSP00000364411.2:p.Tyr252Asn
ENST00000375263.7:c.904T>A	ENSP00000364412.3:p.Tyr302Asn
ENST00000464104.5:n.757T>A
ENST00000467499.5:n.164T>A
ENST00000494814.5:n.463T>A
NM_000197.1:c.904T>A	NP_000188.1:p.Tyr302Asn
XM_005251970.3:c.544T>A	XP_005252027.1:p.Tyr182Asn
XM_011518618.1:c.904T>A	XP_011516920.1:p.Tyr302Asn
XM_011518619.1:c.904T>A	XP_011516921.1:p.Tyr302Asn
XM_011518620.1:c.796T>A	XP_011516922.1:p.Tyr266Asn
NM_000197.2:c.904T>A MANE Select	NP_000188.1:p.Tyr302Asn
XM_011518618.2:c.904T>A	XP_011516920.1:p.Tyr302Asn
XM_011518619.2:c.904T>A	XP_011516921.1:p.Tyr302Asn
XM_017014671.1:c.904T>A	XP_016870160.1:p.Tyr302Asn
XM_017014672.1:c.904T>A	XP_016870161.1:p.Tyr302Asn
XM_017014673.2:c.868T>A	XP_016870162.1:p.Tyr290Asn
XM_017014674.1:c.796T>A	XP_016870163.1:p.Tyr266Asn
XM_017014675.1:c.742T>A	XP_016870164.1:p.Tyr248Asn
XM_017014677.1:c.544T>A	XP_016870166.1:p.Tyr182Asn
XM_024447529.1:c.742T>A	XP_024303297.1:p.Tyr248Asn
XR_002956778.1:n.3376T>A