Canonical Allele Identifier: CA354601338
Community Standard Title: NM_001063.4(TF):c.164G>A (p.Ser55Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133748532G>A , CM000665.2:g.133748532G>A GRCh38
NC_000003.11:g.133467376G>A , CM000665.1:g.133467376G>A GRCh37
NC_000003.10:g.134950066G>A NCBI36
NG_013080.1:g.7400G>A
NG_013080.2:g.91535G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001063.4:c.164G>A (TF) MANE Select NP_001054.2:p.Ser55Asn
ENST00000402696.9:c.164G>A (TF) MANE Select ENSP00000385834.3:p.Ser55Asn
NM_001063.3:c.164G>A (TF) NP_001054.1:p.Ser55Asn
NM_001354703.1:c.32G>A (TF) NP_001341632.1:p.Ser11Asn
NM_001354703.2:c.32G>A (TF) NP_001341632.2:p.Ser11Asn
NM_001354704.1:c.-166+2049G>A (TF) NP_001341633.1:n.-166+2049G>A
NM_001354704.2:c.-166+2049G>A (TF) NP_001341633.2:n.-166+2049G>A
ENST00000402696.7:c.164G>A (TF) ENSP00000385834.3:p.Ser55Asn
ENST00000414694.5:c.164G>A (TF) ENSP00000401505.1:p.Ser55Asn
ENST00000460531.5:n.91+2049G>A (TF)
ENST00000460564.5:n.382-5063G>A (INHCAP)
ENST00000466911.5:c.32G>A (TF) ENSP00000417468.1:p.Ser11Asn
ENST00000474287.5:n.277G>A (TF)
ENST00000475382.5:n.256G>A (TF)
ENST00000482271.5:c.-166+2049G>A (TF) ENSP00000419338.1:n.-166+2049G>A
ENST00000485977.1:c.157+7G>A (TF) ENSP00000418716.1:n.157+7G>A
ENST00000493011.5:n.212G>A (TF)
ENST00000494430.5:c.164G>A (TF) ENSP00000418396.1:p.Ser55Asn
ENST00000498622.1:n.393G>A (TF)
XM_011513100.1:c.164G>A (TF) XP_011511402.1:p.Ser55Asn