Canonical Allele Identifier: CA537051252
Gene: GALNT5 HGNC NCBI

Linked Data

dbSNP Id: rs1301773112

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157302021A>C , CM000664.2:g.157302021A>C GRCh38
NC_000002.11:g.158158533A>C , CM000664.1:g.158158533A>C GRCh37
NC_000002.10:g.157866779A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000259056.5:c.2439+1022A>C MANE Select ENSP00000259056.4:n.2439+1022A>C
ENST00000259056.4:c.2439+1022A>C ENSP00000259056.4:n.2439+1022A>C
ENST00000461704.1:n.178-107A>C
ENST00000463418.5:n.198-107A>C
NM_014568.1:c.2439+1022A>C NP_055383.1:n.2439+1022A>C
NM_001329868.1:c.1029+1022A>C NP_001316797.1:n.1029+1022A>C
NM_014568.2:c.2439+1022A>C NP_055383.1:n.2439+1022A>C
XM_017003237.2:c.2439+1022A>C XP_016858726.1:n.2439+1022A>C
NM_014568.3:c.2439+1022A>C MANE Select NP_055383.1:n.2439+1022A>C
NM_001329868.2:c.1029+1022A>C NP_001316797.1:n.1029+1022A>C