Canonical Allele Identifier: CA231807971
Gene: GALNT8 HGNC NCBI

Linked Data

dbSNP Id: rs191572027
gnomAD v3: 12-4754168-G-C
gnomAD v4: 12-4754168-G-C
MyVariant Identifiers: chr12:g.4863334G>C (hg19) chr12:g.4754168G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4754168G>C , CM000674.2:g.4754168G>C GRCh38
NC_000012.11:g.4863334G>C , CM000674.1:g.4863334G>C GRCh37
NC_000012.10:g.4733595G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000252318.7:c.1174-6790G>C MANE Select ENSP00000252318.2:n.1174-6790G>C
ENST00000648836.1:c.964-6790G>C ENSP00000497305.1:n.964-6790G>C
ENST00000648865.1:n.26-6790G>C
ENST00000252318.6:c.1174-6790G>C ENSP00000252318.2:n.1174-6790G>C
NM_017417.1:c.1174-6790G>C NP_059113.1:n.1174-6790G>C
NM_017417.2:c.1174-6790G>C MANE Select NP_059113.1:n.1174-6790G>C
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