Canonical Allele Identifier: CA374123368

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99003177A>T (hg19) ; chr9:g.96240895A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96240895A>T , CM000671.2:g.96240895A>T	GRCh38
NC_000009.11:g.99003177A>T , CM000671.1:g.99003177A>T	GRCh37
NC_000009.10:g.98042998A>T	NCBI36
NG_008157.1:g.66258T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000375262.4:c.672+3434T>A	ENSP00000364411.2:n.672+3434T>A
ENST00000375263.8:c.685T>A MANE Select	ENSP00000364412.3:p.Tyr229Asn
ENST00000463517.2:n.2227T>A
ENST00000464104.6:n.1623T>A
ENST00000467499.6:c.*384T>A	ENSP00000498077.1:n.*384T>A
ENST00000484816.2:n.36T>A
ENST00000494814.6:n.235T>A
ENST00000643789.1:c.2977T>A
ENST00000648146.1:c.685T>A	ENSP00000497238.1:p.Tyr229Asn
ENST00000648332.1:c.362T>A	ENSP00000497562.1:n.362T>A
ENST00000648799.1:c.577T>A	ENSP00000498039.1:p.Tyr193Asn
ENST00000650005.1:c.614T>A	ENSP00000498121.1:n.614T>A
ENST00000375262.3:c.672+3434T>A	ENSP00000364411.2:n.672+3434T>A
ENST00000375263.7:c.685T>A	ENSP00000364412.3:p.Tyr229Asn
ENST00000464104.5:n.538T>A
ENST00000484816.1:n.35T>A
ENST00000494814.5:n.244T>A
NM_000197.1:c.685T>A	NP_000188.1:p.Tyr229Asn
XM_005251970.3:c.325T>A	XP_005252027.1:p.Tyr109Asn
XM_011518618.1:c.685T>A	XP_011516920.1:p.Tyr229Asn
XM_011518619.1:c.685T>A	XP_011516921.1:p.Tyr229Asn
XM_011518620.1:c.577T>A	XP_011516922.1:p.Tyr193Asn
XM_011518621.1:c.*6T>A	XP_011516923.1:n.*6T>A
NM_000197.2:c.685T>A MANE Select	NP_000188.1:p.Tyr229Asn
XM_011518618.2:c.685T>A	XP_011516920.1:p.Tyr229Asn
XM_011518619.2:c.685T>A	XP_011516921.1:p.Tyr229Asn
XM_017014671.1:c.685T>A	XP_016870160.1:p.Tyr229Asn
XM_017014672.1:c.685T>A	XP_016870161.1:p.Tyr229Asn
XM_017014673.2:c.649T>A	XP_016870162.1:p.Tyr217Asn
XM_017014674.1:c.577T>A	XP_016870163.1:p.Tyr193Asn
XM_017014675.1:c.523T>A	XP_016870164.1:p.Tyr175Asn
XM_017014677.1:c.325T>A	XP_016870166.1:p.Tyr109Asn
XM_024447529.1:c.523T>A	XP_024303297.1:p.Tyr175Asn
XR_002956778.1:n.3157T>A