Canonical Allele Identifier: CA689413360

Gene: GALNT8

Linked Data

• dbSNP Id: rs1433877133
• MyVariant Identifiers: chr12:g.4863344del (hg19) ; chr12:g.4754178del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4754179del , CM000674.2:g.4754179del	GRCh38
NC_000012.11:g.4863345del , CM000674.1:g.4863345del	GRCh37
NC_000012.10:g.4733606del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000252318.7:c.1174-6779del MANE Select	ENSP00000252318.2:n.1174-6779del
ENST00000648836.1:c.964-6779del	ENSP00000497305.1:n.964-6779del
ENST00000648865.1:n.26-6779del
ENST00000252318.6:c.1174-6779del	ENSP00000252318.2:n.1174-6779del
NM_017417.1:c.1174-6779del	NP_059113.1:n.1174-6779del
NM_017417.2:c.1174-6779del MANE Select	NP_059113.1:n.1174-6779del