Canonical Allele Identifier: CA337824548
Gene: B3GALT6 HGNC NCBI

Linked Data

gnomAD v4: 1-1232612-G-T
MyVariant Identifiers: chr1:g.1167992G>T (hg19) chr1:g.1232612G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232612G>T , CM000663.2:g.1232612G>T GRCh38
NC_000001.10:g.1167992G>T , CM000663.1:g.1167992G>T GRCh37
NC_000001.9:g.1157855G>T NCBI36
NG_030007.1:g.4456C>A
NG_033265.1:g.5364G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.334G>T MANE Select ENSP00000368496.2:p.Glu112Ter
ENST00000379198.3:c.334G>T ENSP00000368496.2:p.Glu112Ter
NM_080605.3:c.334G>T NP_542172.2:p.Glu112Ter
NM_080605.4:c.334G>T MANE Select NP_542172.2:p.Glu112Ter
Search 100 bp 5'
Search 100 bp 3'