Canonical Allele Identifier: CA340864026

Gene: ST6GALNAC5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77063133T>C , CM000663.2:g.77063133T>C	GRCh38
NC_000001.10:g.77528818T>C , CM000663.1:g.77528818T>C	GRCh37
NC_000001.9:g.77301406T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477717.6:c.938T>C MANE Select	ENSP00000417583.1:p.Ile313Thr
ENST00000318803.6:c.*223T>C	ENSP00000436263.1:n.*223T>C
ENST00000477717.5:c.938T>C	ENSP00000417583.1:p.Ile313Thr
NM_030965.1:c.938T>C	NP_112227.1:p.Ile313Thr
XM_005271238.2:c.830T>C	XP_005271295.1:p.Ile277Thr
XR_946772.1:n.1169T>C
NM_001320273.1:c.*201T>C	NP_001307202.1:n.*201T>C
NM_001320274.1:c.*120T>C	NP_001307203.1:n.*120T>C
NM_030965.2:c.938T>C	NP_112227.1:p.Ile313Thr
XR_001737460.2:n.1165T>C
NM_030965.3:c.938T>C MANE Select	NP_112227.1:p.Ile313Thr
NM_001320273.2:c.*201T>C	NP_001307202.1:n.*201T>C
NM_001320274.2:c.*120T>C	NP_001307203.1:n.*120T>C