Canonical Allele Identifier: CA337823565
Gene: B3GALT6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.1167890A>G (hg19) chr1:g.1232510A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232510A>G , CM000663.2:g.1232510A>G GRCh38
NC_000001.10:g.1167890A>G , CM000663.1:g.1167890A>G GRCh37
NC_000001.9:g.1157753A>G NCBI36
NG_030007.1:g.4558T>C
NG_033265.1:g.5262A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.232A>G MANE Select ENSP00000368496.2:p.Ser78Gly
ENST00000379198.3:c.232A>G ENSP00000368496.2:p.Ser78Gly
NM_080605.3:c.232A>G NP_542172.2:p.Ser78Gly
NM_080605.4:c.232A>G MANE Select NP_542172.2:p.Ser78Gly
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