Canonical Allele Identifier: CA374121791

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.98997799T>A (hg19) ; chr9:g.96235517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96235517T>A , CM000671.2:g.96235517T>A	GRCh38
NC_000009.11:g.98997799T>A , CM000671.1:g.98997799T>A	GRCh37
NC_000009.10:g.98037620T>A	NCBI36
NG_008157.1:g.71636A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.726A>T	ENSP00000364411.2:p.Gln242His
ENST00000375263.8:c.876A>T MANE Select	ENSP00000364412.3:p.Gln292His
ENST00000463517.2:n.2418A>T
ENST00000464104.6:n.1814A>T
ENST00000467499.6:c.*575A>T	ENSP00000498077.1:n.*575A>T
ENST00000494814.6:n.426A>T
ENST00000643789.1:c.3168A>T
ENST00000648146.1:c.1014A>T	ENSP00000497238.1:n.1014A>T
ENST00000648332.1:c.553A>T	ENSP00000497562.1:n.553A>T
ENST00000650005.1:c.805A>T	ENSP00000498121.1:n.805A>T
ENST00000375262.3:c.726A>T	ENSP00000364411.2:p.Gln242His
ENST00000375263.7:c.876A>T	ENSP00000364412.3:p.Gln292His
ENST00000464104.5:n.729A>T
ENST00000467499.5:n.136A>T
ENST00000494814.5:n.435A>T
NM_000197.1:c.876A>T	NP_000188.1:p.Gln292His
XM_005251970.3:c.516A>T	XP_005252027.1:p.Gln172His
XM_011518618.1:c.876A>T	XP_011516920.1:p.Gln292His
XM_011518619.1:c.876A>T	XP_011516921.1:p.Gln292His
XM_011518620.1:c.768A>T	XP_011516922.1:p.Gln256His
NM_000197.2:c.876A>T MANE Select	NP_000188.1:p.Gln292His
XM_011518618.2:c.876A>T	XP_011516920.1:p.Gln292His
XM_011518619.2:c.876A>T	XP_011516921.1:p.Gln292His
XM_017014671.1:c.876A>T	XP_016870160.1:p.Gln292His
XM_017014672.1:c.876A>T	XP_016870161.1:p.Gln292His
XM_017014673.2:c.840A>T	XP_016870162.1:p.Gln280His
XM_017014674.1:c.768A>T	XP_016870163.1:p.Gln256His
XM_017014675.1:c.714A>T	XP_016870164.1:p.Gln238His
XM_017014677.1:c.516A>T	XP_016870166.1:p.Gln172His
XM_024447529.1:c.714A>T	XP_024303297.1:p.Gln238His
XR_002956778.1:n.3348A>T