Canonical Allele Identifier: CA915461
Community Standard Title: NM_030965.3(ST6GALNAC5):c.564C>G (p.Asn188Lys)
Gene: ST6GALNAC5 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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