Canonical Allele Identifier: CA415761251
Gene: B3GALT6 HGNC NCBI

Linked Data

ClinVar Variation Id: 2142855
ClinVar RCV Id: RCV003051204
dbSNP Id: rs1410126668
gnomAD v3: 1-1232539-G-A
gnomAD v4: 1-1232539-G-A
MyVariant Identifiers: chr1:g.1167919G>A (hg19) chr1:g.1232539G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232539G>A , CM000663.2:g.1232539G>A GRCh38
NC_000001.10:g.1167919G>A , CM000663.1:g.1167919G>A GRCh37
NC_000001.9:g.1157782G>A NCBI36
NG_030007.1:g.4529C>T
NG_033265.1:g.5291G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.261G>A MANE Select ENSP00000368496.2:p.Pro87=
ENST00000379198.3:c.261G>A ENSP00000368496.2:p.Pro87=
NM_080605.3:c.261G>A NP_542172.2:p.Pro87=
NM_080605.4:c.261G>A MANE Select NP_542172.2:p.Pro87=
Search 100 bp 5'
Search 100 bp 3'