Canonical Allele Identifier: CA415761073
Gene: B3GALT6 HGNC NCBI

Linked Data

dbSNP Id: rs1164944447
gnomAD v2: 1-1167862-C-T
gnomAD v3: 1-1232482-C-T
gnomAD v4: 1-1232482-C-T
MyVariant Identifiers: chr1:g.1167862C>T (hg19) chr1:g.1232482C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232482C>T , CM000663.2:g.1232482C>T GRCh38
NC_000001.10:g.1167862C>T , CM000663.1:g.1167862C>T GRCh37
NC_000001.9:g.1157725C>T NCBI36
NG_030007.1:g.4586G>A
NG_033265.1:g.5234C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.204C>T MANE Select ENSP00000368496.2:p.Arg68=
ENST00000379198.3:c.204C>T ENSP00000368496.2:p.Arg68=
NM_080605.3:c.204C>T NP_542172.2:p.Arg68=
NM_080605.4:c.204C>T MANE Select NP_542172.2:p.Arg68=
Search 100 bp 5'
Search 100 bp 3'