Canonical Allele Identifier: CA13577959

Gene: GALNT8

Linked Data

• dbSNP Id: rs10849138
• gnomAD v2: 12-4863308-G-C
• gnomAD v3: 12-4754142-G-C
• gnomAD v4: 12-4754142-G-C
• MyVariant Identifiers: chr12:g.4863308G>C (hg19) ; chr12:g.4754142G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4754142G>C , CM000674.2:g.4754142G>C	GRCh38
NC_000012.11:g.4863308G>C , CM000674.1:g.4863308G>C	GRCh37
NC_000012.10:g.4733569G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000252318.7:c.1174-6816G>C MANE Select	ENSP00000252318.2:n.1174-6816G>C
ENST00000648836.1:c.964-6816G>C	ENSP00000497305.1:n.964-6816G>C
ENST00000648865.1:n.26-6816G>C
ENST00000252318.6:c.1174-6816G>C	ENSP00000252318.2:n.1174-6816G>C
NM_017417.1:c.1174-6816G>C	NP_059113.1:n.1174-6816G>C
NM_017417.2:c.1174-6816G>C MANE Select	NP_059113.1:n.1174-6816G>C