Canonical Allele Identifier: CA513317
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 661179
ClinVar RCV Id: RCV000818547 RCV001093298 RCV002537434
dbSNP Id: rs558454078
ExAC: 1:1167999 C / A
gnomAD v2: 1-1167999-C-A
gnomAD v3: 1-1232619-C-A
gnomAD v4: 1-1232619-C-A
MyVariant Identifiers: chr1:g.1167999C>A (hg19) chr1:g.1232619C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232619C>A , CM000663.2:g.1232619C>A GRCh38
NC_000001.10:g.1167999C>A , CM000663.1:g.1167999C>A GRCh37
NC_000001.9:g.1157862C>A NCBI36
NG_030007.1:g.4449G>T
NG_033265.1:g.5371C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.341C>A MANE Select ENSP00000368496.2:p.Ala114Glu
ENST00000379198.3:c.341C>A ENSP00000368496.2:p.Ala114Glu
NM_080605.3:c.341C>A NP_542172.2:p.Ala114Glu
NM_080605.4:c.341C>A MANE Select NP_542172.2:p.Ala114Glu
Search 100 bp 5'
Search 100 bp 3'