Canonical Allele Identifier: CA2539912327
Gene: GALNT8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4754181C>A , CM000674.2:g.4754181C>A GRCh38
NC_000012.11:g.4863347C>A , CM000674.1:g.4863347C>A GRCh37
NC_000012.10:g.4733608C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000252318.7:c.1174-6777C>A MANE Select ENSP00000252318.2:n.1174-6777C>A
ENST00000648836.1:c.964-6777C>A ENSP00000497305.1:n.964-6777C>A
ENST00000648865.1:n.26-6777C>A
ENST00000252318.6:c.1174-6777C>A ENSP00000252318.2:n.1174-6777C>A
NM_017417.1:c.1174-6777C>A NP_059113.1:n.1174-6777C>A
NM_017417.2:c.1174-6777C>A MANE Select NP_059113.1:n.1174-6777C>A
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