Canonical Allele Identifier: CA337823526
Gene: B3GALT6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.1167884A>C (hg19) chr1:g.1232504A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232504A>C , CM000663.2:g.1232504A>C GRCh38
NC_000001.10:g.1167884A>C , CM000663.1:g.1167884A>C GRCh37
NC_000001.9:g.1157747A>C NCBI36
NG_030007.1:g.4564T>G
NG_033265.1:g.5256A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.226A>C MANE Select ENSP00000368496.2:p.Ile76Leu
ENST00000379198.3:c.226A>C ENSP00000368496.2:p.Ile76Leu
NM_080605.3:c.226A>C NP_542172.2:p.Ile76Leu
NM_080605.4:c.226A>C MANE Select NP_542172.2:p.Ile76Leu
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