Canonical Allele Identifier: CA2260535958
Community Standard Title: NM_000413.4(HSD17B1):c.937G= (p.Gly313=)
Gene: HSD17B1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000413.4:c.937G= MANE Select NP_000404.2:p.Gly313=
ENST00000585807.6:c.937G= MANE Select ENSP00000466799.1:p.Gly313=
NM_000413.2:c.937G= NP_000404.2:p.Gly313=
NM_000413.3:c.937G= NP_000404.2:p.Gly313=
NM_001330219.2:c.940G= NP_001317148.1:p.Gly314=
NM_001330219.3:c.940G= NP_001317148.1:p.Gly314=
NR_144397.1:n.1219G=
NR_144397.2:n.854G=
ENST00000225929.5:c.940G= ENSP00000225929.5:p.Gly314=
ENST00000585807.5:c.937G= ENSP00000466799.1:p.Gly313=
ENST00000590299.5:c.*393G= ENSP00000465128.1:n.*393G=
XM_005257292.2:c.1030G= XP_005257349.1:p.Gly344=
XM_006721857.2:c.1119G= XP_006721920.1:p.Ala373=
XM_006721858.2:c.1116G= XP_006721921.1:p.Ala372=
XM_006721859.2:c.1033G= XP_006721922.1:p.Gly345=
XM_011524729.1:c.1026G= XP_011523031.1:p.Ala342=
XM_011524730.1:c.1023G= XP_011523032.1:p.Ala341=
XM_011524731.1:c.940G= XP_011523033.1:p.Gly314=
XR_934451.1:n.1219G=