Canonical Allele Identifier: CA408548863

Gene: POFUT1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.32215311C>T , CM000682.2:g.32215311C>T	GRCh38
NC_000020.10:g.30803114C>T , CM000682.1:g.30803114C>T	GRCh37
NC_000020.9:g.30266775C>T	NCBI36
NG_033906.1:g.12419C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015352.2:c.289C>T MANE Select	NP_056167.1:p.Gln97Ter
ENST00000375749.8:c.289C>T MANE Select	ENSP00000364902.3:p.Gln97Ter
NM_015352.1:c.289C>T	NP_056167.1:p.Gln97Ter
NM_172236.1:c.289C>T	NP_758436.1:p.Gln97Ter
NM_172236.2:c.289C>T	NP_758436.1:p.Gln97Ter
ENST00000375730.3:c.289C>T	ENSP00000364882.3:p.Gln97Ter
ENST00000375749.7:c.289C>T	ENSP00000364902.3:p.Gln97Ter
ENST00000486717.5:n.174C>T
ENST00000706471.1:c.289C>T	ENSP00000516404.1:p.Gln97Ter
ENST00000706472.1:c.167C>T	ENSP00000516405.1:p.Pro56Leu
XR_001754218.2:n.342C>T
XR_430297.2:n.409C>T