Canonical Allele Identifier: CA1300888576
Gene: GALNT5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.157302024C= , CM000664.2:g.157302024C= GRCh38
NC_000002.11:g.158158536C= , CM000664.1:g.158158536C= GRCh37
NC_000002.10:g.157866782C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000259056.5:c.2439+1025C= MANE Select ENSP00000259056.4:n.2439+1025C=
ENST00000259056.4:c.2439+1025C= ENSP00000259056.4:n.2439+1025C=
ENST00000461704.1:n.178-104C=
ENST00000463418.5:n.198-104C=
NM_014568.1:c.2439+1025C= NP_055383.1:n.2439+1025C=
NM_001329868.1:c.1029+1025C= NP_001316797.1:n.1029+1025C=
NM_014568.2:c.2439+1025C= NP_055383.1:n.2439+1025C=
XM_017003237.2:c.2439+1025C= XP_016858726.1:n.2439+1025C=
NM_014568.3:c.2439+1025C= MANE Select NP_055383.1:n.2439+1025C=
NM_001329868.2:c.1029+1025C= NP_001316797.1:n.1029+1025C=
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