Canonical Allele Identifier: CA340862602
Community Standard Title: NM_030965.3(ST6GALNAC5):c.564C>A (p.Asn188Lys)
Gene: ST6GALNAC5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77044506C>A , CM000663.2:g.77044506C>A GRCh38
NC_000001.10:g.77510191C>A , CM000663.1:g.77510191C>A GRCh37
NC_000001.9:g.77282779C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030965.3:c.564C>A MANE Select NP_112227.1:p.Asn188Lys
ENST00000477717.6:c.564C>A MANE Select ENSP00000417583.1:p.Asn188Lys
NM_001320273.1:c.262-5752C>A NP_001307202.1:n.262-5752C>A
NM_001320273.2:c.262-5752C>A NP_001307202.1:n.262-5752C>A
NM_001320274.1:c.262-18469C>A NP_001307203.1:n.262-18469C>A
NM_001320274.2:c.262-18469C>A NP_001307203.1:n.262-18469C>A
NM_030965.1:c.564C>A NP_112227.1:p.Asn188Lys
NM_030965.2:c.564C>A NP_112227.1:p.Asn188Lys
ENST00000318803.6:c.564C>A ENSP00000436263.1:p.Asn188Lys
ENST00000477717.5:c.564C>A ENSP00000417583.1:p.Asn188Lys
ENST00000488940.1:n.367C>A
XM_005271238.2:c.564C>A XP_005271295.1:p.Asn188Lys
XR_001737460.2:n.791C>A
XR_946772.1:n.799C>A