Canonical Allele Identifier: CA374123448

Gene: HSD17B3

Linked Data

• MyVariant Identifiers: chr9:g.99006622C>T (hg19) ; chr9:g.96244340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.96244340C>T , CM000671.2:g.96244340C>T	GRCh38
NC_000009.11:g.99006622C>T , CM000671.1:g.99006622C>T	GRCh37
NC_000009.10:g.98046443C>T	NCBI36
NG_008157.1:g.62813G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375262.4:c.661G>A	ENSP00000364411.2:p.Val221Ile
ENST00000375263.8:c.661G>A MANE Select	ENSP00000364412.3:p.Val221Ile
ENST00000463517.2:n.2203G>A
ENST00000464104.6:n.1599G>A
ENST00000467499.6:c.*360G>A	ENSP00000498077.1:n.*360G>A
ENST00000484816.2:n.12G>A
ENST00000494814.6:n.173G>A
ENST00000643789.1:c.2953G>A
ENST00000648146.1:c.661G>A	ENSP00000497238.1:p.Val221Ile
ENST00000648332.1:c.338G>A	ENSP00000497562.1:n.338G>A
ENST00000648799.1:c.553G>A	ENSP00000498039.1:p.Val185Ile
ENST00000650005.1:c.590G>A	ENSP00000498121.1:n.590G>A
ENST00000375262.3:c.661G>A	ENSP00000364411.2:p.Val221Ile
ENST00000375263.7:c.661G>A	ENSP00000364412.3:p.Val221Ile
ENST00000464104.5:n.514G>A
ENST00000484816.1:n.11G>A
ENST00000494814.5:n.182G>A
NM_000197.1:c.661G>A	NP_000188.1:p.Val221Ile
XM_005251970.3:c.301G>A	XP_005252027.1:p.Val101Ile
XM_011518618.1:c.661G>A	XP_011516920.1:p.Val221Ile
XM_011518619.1:c.661G>A	XP_011516921.1:p.Val221Ile
XM_011518620.1:c.553G>A	XP_011516922.1:p.Val185Ile
XM_011518621.1:c.661G>A	XP_011516923.1:p.Val221Ile
NM_000197.2:c.661G>A MANE Select	NP_000188.1:p.Val221Ile
XM_011518618.2:c.661G>A	XP_011516920.1:p.Val221Ile
XM_011518619.2:c.661G>A	XP_011516921.1:p.Val221Ile
XM_017014671.1:c.661G>A	XP_016870160.1:p.Val221Ile
XM_017014672.1:c.661G>A	XP_016870161.1:p.Val221Ile
XM_017014673.2:c.625G>A	XP_016870162.1:p.Val209Ile
XM_017014674.1:c.553G>A	XP_016870163.1:p.Val185Ile
XM_017014675.1:c.499G>A	XP_016870164.1:p.Val167Ile
XM_017014677.1:c.301G>A	XP_016870166.1:p.Val101Ile
XM_024447529.1:c.499G>A	XP_024303297.1:p.Val167Ile
XR_002956778.1:n.3095G>A