Canonical Allele Identifier: CA415761041
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1627476
ClinVar RCV Id: RCV002132931
dbSNP Id: rs1402832925
gnomAD v2: 1-1168045-C-T
gnomAD v3: 1-1232665-C-T
gnomAD v4: 1-1232665-C-T
MyVariant Identifiers: chr1:g.1168045C>T (hg19) chr1:g.1232665C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232665C>T , CM000663.2:g.1232665C>T GRCh38
NC_000001.10:g.1168045C>T , CM000663.1:g.1168045C>T GRCh37
NC_000001.9:g.1157908C>T NCBI36
NG_030007.1:g.4403G>A
NG_033265.1:g.5417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.387C>T MANE Select ENSP00000368496.2:p.Tyr129=
ENST00000379198.3:c.387C>T ENSP00000368496.2:p.Tyr129=
NM_080605.3:c.387C>T NP_542172.2:p.Tyr129=
NM_080605.4:c.387C>T MANE Select NP_542172.2:p.Tyr129=
Search 100 bp 5'
Search 100 bp 3'