Canonical Allele Identifier: CA374121572

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997758T>A (hg19) ; chr9:g.96235476T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235476T>A , CM000671.2:g.96235476T>A	GRCh38
NC_000009.11:g.98997758T>A , CM000671.1:g.98997758T>A	GRCh37
NC_000009.10:g.98037579T>A	NCBI36
NG_008157.1:g.71677A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.767A>T	ENSP00000364411.2:p.Asn256Ile
ENST00000375263.8:c.917A>T MANE Select	ENSP00000364412.3:p.Asn306Ile
ENST00000463517.2:n.2459A>T
ENST00000464104.6:n.1855A>T
ENST00000467499.6:c.*616A>T	ENSP00000498077.1:n.*616A>T
ENST00000494814.6:n.467A>T
ENST00000643789.1:c.3209A>T
ENST00000648146.1:c.1055A>T	ENSP00000497238.1:n.1055A>T
ENST00000648332.1:c.594A>T	ENSP00000497562.1:n.594A>T
ENST00000650005.1:c.846A>T	ENSP00000498121.1:n.846A>T
ENST00000375262.3:c.767A>T	ENSP00000364411.2:p.Asn256Ile
ENST00000375263.7:c.917A>T	ENSP00000364412.3:p.Asn306Ile
ENST00000464104.5:n.770A>T
ENST00000467499.5:n.177A>T
ENST00000494814.5:n.476A>T
NM_000197.1:c.917A>T	NP_000188.1:p.Asn306Ile
XM_005251970.3:c.557A>T	XP_005252027.1:p.Asn186Ile
XM_011518618.1:c.917A>T	XP_011516920.1:p.Asn306Ile
XM_011518619.1:c.917A>T	XP_011516921.1:p.Asn306Ile
XM_011518620.1:c.809A>T	XP_011516922.1:p.Asn270Ile
NM_000197.2:c.917A>T MANE Select	NP_000188.1:p.Asn306Ile
XM_011518618.2:c.917A>T	XP_011516920.1:p.Asn306Ile
XM_011518619.2:c.917A>T	XP_011516921.1:p.Asn306Ile
XM_017014671.1:c.917A>T	XP_016870160.1:p.Asn306Ile
XM_017014672.1:c.917A>T	XP_016870161.1:p.Asn306Ile
XM_017014673.2:c.881A>T	XP_016870162.1:p.Asn294Ile
XM_017014674.1:c.809A>T	XP_016870163.1:p.Asn270Ile
XM_017014675.1:c.755A>T	XP_016870164.1:p.Asn252Ile
XM_017014677.1:c.557A>T	XP_016870166.1:p.Asn186Ile
XM_024447529.1:c.755A>T	XP_024303297.1:p.Asn252Ile
XR_002956778.1:n.3389A>T