Canonical Allele Identifier: CA374121598

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997765T>A (hg19) ; chr9:g.96235483T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235483T>A , CM000671.2:g.96235483T>A	GRCh38
NC_000009.11:g.98997765T>A , CM000671.1:g.98997765T>A	GRCh37
NC_000009.10:g.98037586T>A	NCBI36
NG_008157.1:g.71670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.760A>T	ENSP00000364411.2:p.Lys254Ter
ENST00000375263.8:c.910A>T MANE Select	ENSP00000364412.3:p.Lys304Ter
ENST00000463517.2:n.2452A>T
ENST00000464104.6:n.1848A>T
ENST00000467499.6:c.*609A>T	ENSP00000498077.1:n.*609A>T
ENST00000494814.6:n.460A>T
ENST00000643789.1:c.3202A>T
ENST00000648146.1:c.1048A>T	ENSP00000497238.1:n.1048A>T
ENST00000648332.1:c.587A>T	ENSP00000497562.1:n.587A>T
ENST00000650005.1:c.839A>T	ENSP00000498121.1:n.839A>T
ENST00000375262.3:c.760A>T	ENSP00000364411.2:p.Lys254Ter
ENST00000375263.7:c.910A>T	ENSP00000364412.3:p.Lys304Ter
ENST00000464104.5:n.763A>T
ENST00000467499.5:n.170A>T
ENST00000494814.5:n.469A>T
NM_000197.1:c.910A>T	NP_000188.1:p.Lys304Ter
XM_005251970.3:c.550A>T	XP_005252027.1:p.Lys184Ter
XM_011518618.1:c.910A>T	XP_011516920.1:p.Lys304Ter
XM_011518619.1:c.910A>T	XP_011516921.1:p.Lys304Ter
XM_011518620.1:c.802A>T	XP_011516922.1:p.Lys268Ter
NM_000197.2:c.910A>T MANE Select	NP_000188.1:p.Lys304Ter
XM_011518618.2:c.910A>T	XP_011516920.1:p.Lys304Ter
XM_011518619.2:c.910A>T	XP_011516921.1:p.Lys304Ter
XM_017014671.1:c.910A>T	XP_016870160.1:p.Lys304Ter
XM_017014672.1:c.910A>T	XP_016870161.1:p.Lys304Ter
XM_017014673.2:c.874A>T	XP_016870162.1:p.Lys292Ter
XM_017014674.1:c.802A>T	XP_016870163.1:p.Lys268Ter
XM_017014675.1:c.748A>T	XP_016870164.1:p.Lys250Ter
XM_017014677.1:c.550A>T	XP_016870166.1:p.Lys184Ter
XM_024447529.1:c.748A>T	XP_024303297.1:p.Lys250Ter
XR_002956778.1:n.3382A>T