Canonical Allele Identifier: CA915401

Gene: ST6GALNAC5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77044306C>T , CM000663.2:g.77044306C>T	GRCh38
NC_000001.10:g.77509991C>T , CM000663.1:g.77509991C>T	GRCh37
NC_000001.9:g.77282579C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_030965.3:c.364C>T MANE Select	NP_112227.1:p.Arg122Cys
ENST00000477717.6:c.364C>T MANE Select	ENSP00000417583.1:p.Arg122Cys
NM_001320273.1:c.262-5952C>T	NP_001307202.1:n.262-5952C>T
NM_001320273.2:c.262-5952C>T	NP_001307202.1:n.262-5952C>T
NM_001320274.1:c.262-18669C>T	NP_001307203.1:n.262-18669C>T
NM_001320274.2:c.262-18669C>T	NP_001307203.1:n.262-18669C>T
NM_030965.1:c.364C>T	NP_112227.1:p.Arg122Cys
NM_030965.2:c.364C>T	NP_112227.1:p.Arg122Cys
ENST00000318803.6:c.364C>T	ENSP00000436263.1:p.Arg122Cys
ENST00000477717.5:c.364C>T	ENSP00000417583.1:p.Arg122Cys
ENST00000488940.1:n.167C>T
XM_005271238.2:c.364C>T	XP_005271295.1:p.Arg122Cys
XR_001737460.2:n.591C>T
XR_946772.1:n.599C>T