Canonical Allele Identifier: CA337823580
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232512-C-G
MyVariant Identifiers: chr1:g.1167892C>G (hg19) chr1:g.1232512C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232512C>G , CM000663.2:g.1232512C>G GRCh38
NC_000001.10:g.1167892C>G , CM000663.1:g.1167892C>G GRCh37
NC_000001.9:g.1157755C>G NCBI36
NG_030007.1:g.4556G>C
NG_033265.1:g.5264C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.234C>G MANE Select ENSP00000368496.2:p.Ser78Arg
ENST00000379198.3:c.234C>G ENSP00000368496.2:p.Ser78Arg
NM_080605.3:c.234C>G NP_542172.2:p.Ser78Arg
NM_080605.4:c.234C>G MANE Select NP_542172.2:p.Ser78Arg
Search 100 bp 5'
Search 100 bp 3'