Canonical Allele Identifier: CA231807991
Gene: GALNT8 HGNC NCBI

Linked Data

dbSNP Id: rs371466153
gnomAD v2: 12-4863357-G-GTA
gnomAD v3: 12-4754191-G-GTA
gnomAD v4: 12-4754191-G-GTA
MyVariant Identifiers: chr12:g.4863357_4863358insTA (hg19) chr12:g.4754191_4754192insTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4754192_4754193dup , CM000674.2:g.4754192_4754193dup GRCh38
NC_000012.11:g.4863358_4863359dup , CM000674.1:g.4863358_4863359dup GRCh37
NC_000012.10:g.4733619_4733620dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000252318.7:c.1174-6766_1174-6765dup MANE Select ENSP00000252318.2:n.1174-6766_1174-6765dup
ENST00000648836.1:c.964-6766_964-6765dup ENSP00000497305.1:n.964-6766_964-6765dup
ENST00000648865.1:n.26-6766_26-6765dup
ENST00000252318.6:c.1174-6766_1174-6765dup ENSP00000252318.2:n.1174-6766_1174-6765dup
NM_017417.1:c.1174-6766_1174-6765dup NP_059113.1:n.1174-6766_1174-6765dup
NM_017417.2:c.1174-6766_1174-6765dup MANE Select NP_059113.1:n.1174-6766_1174-6765dup
Search 100 bp 5'
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