Canonical Allele Identifier: CA337823457
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1638539152
gnomAD v3: 1-1232487-C-T
gnomAD v4: 1-1232487-C-T
MyVariant Identifiers: chr1:g.1167867C>T (hg19) chr1:g.1232487C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232487C>T , CM000663.2:g.1232487C>T GRCh38
NC_000001.10:g.1167867C>T , CM000663.1:g.1167867C>T GRCh37
NC_000001.9:g.1157730C>T NCBI36
NG_030007.1:g.4581G>A
NG_033265.1:g.5239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.209C>T MANE Select ENSP00000368496.2:p.Ala70Val
ENST00000379198.3:c.209C>T ENSP00000368496.2:p.Ala70Val
NM_080605.3:c.209C>T NP_542172.2:p.Ala70Val
NM_080605.4:c.209C>T MANE Select NP_542172.2:p.Ala70Val
Search 100 bp 5'
Search 100 bp 3'