Canonical Allele Identifier: CA399613804

Gene: HSD17B1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42554888G>T , CM000679.2:g.42554888G>T	GRCh38
NC_000017.10:g.40706906G>T , CM000679.1:g.40706906G>T	GRCh37
NC_000017.9:g.37960432G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000585807.6:c.937G>T MANE Select	ENSP00000466799.1:p.Gly313Cys
ENST00000225929.5:c.940G>T	ENSP00000225929.5:p.Gly314Cys
ENST00000585807.5:c.937G>T	ENSP00000466799.1:p.Gly313Cys
ENST00000590299.5:c.*393G>T	ENSP00000465128.1:n.*393G>T
NM_000413.2:c.937G>T	NP_000404.2:p.Gly313Cys
XM_005257292.2:c.1030G>T	XP_005257349.1:p.Gly344Cys
XM_006721857.2:c.1119G>T	XP_006721920.1:p.Ala373=
XM_006721858.2:c.1116G>T	XP_006721921.1:p.Ala372=
XM_006721859.2:c.1033G>T	XP_006721922.1:p.Gly345Cys
XM_011524729.1:c.1026G>T	XP_011523031.1:p.Ala342=
XM_011524730.1:c.1023G>T	XP_011523032.1:p.Ala341=
XM_011524731.1:c.940G>T	XP_011523033.1:p.Gly314Cys
XR_934451.1:n.1219G>T
NM_000413.3:c.937G>T	NP_000404.2:p.Gly313Cys
NM_001330219.2:c.940G>T	NP_001317148.1:p.Gly314Cys
NR_144397.1:n.1219G>T
NM_000413.4:c.937G>T MANE Select	NP_000404.2:p.Gly313Cys
NM_001330219.3:c.940G>T	NP_001317148.1:p.Gly314Cys
NR_144397.2:n.854G>T