Canonical Allele Identifier: CA2469913817
Community Standard Title: NM_033284.2(TBL1Y):c.224G= (p.Ser75=)
Gene: TBL1Y HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7063916G= , CM000686.2:g.7063916G= GRCh38
NC_000024.9:g.6931957G= , CM000686.1:g.6931957G= GRCh37
NC_000024.8:g.6991957G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_033284.2:c.224G= MANE Select NP_150600.1:p.Ser75=
ENST00000383032.6:c.224G= MANE Select ENSP00000372499.1:p.Ser75=
NM_033284.1:c.224G= NP_150600.1:p.Ser75=
NM_134258.1:c.224G= NP_599020.1:p.Ser75=
NM_134258.2:c.224G= NP_599020.1:p.Ser75=
NM_134259.1:c.224G= NP_599021.1:p.Ser75=
NM_134259.2:c.224G= NP_599021.1:p.Ser75=
ENST00000346432.3:c.224G= ENSP00000328879.4:p.Ser75=
ENST00000355162.6:c.224G= ENSP00000347289.2:p.Ser75=
ENST00000383032.5:c.224G= ENSP00000372499.1:p.Ser75=
XM_005262572.2:c.266G= XP_005262629.1:p.Ser89=
XM_005262572.3:c.266G= XP_005262629.1:p.Ser89=
XM_017030086.1:c.224G= XP_016885575.1:p.Ser75=
XM_017030087.1:c.224G= XP_016885576.1:p.Ser75=
XM_024452497.1:c.224G= XP_024308265.1:p.Ser75=