Canonical Allele Identifier: CA60418358
Gene: B3GALT1 HGNC NCBI

Linked Data

dbSNP Id: rs980671357
gnomAD v3: 2-167709201-G-A
gnomAD v4: 2-167709201-G-A
MyVariant Identifiers: chr2:g.168565711G>A (hg19) chr2:g.167709201G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.167709201G>A , CM000664.2:g.167709201G>A GRCh38
NC_000002.11:g.168565711G>A , CM000664.1:g.168565711G>A GRCh37
NC_000002.10:g.168273957G>A NCBI36
NG_050644.1:g.421141G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392690.4:c.-352+62235G>A MANE Select ENSP00000376456.2:n.-352+62235G>A
XM_005246931.2:c.-352+62235G>A XP_005246988.1:n.-352+62235G>A
XM_011512084.1:c.-352+62235G>A XP_011510386.1:n.-352+62235G>A
XM_011512085.1:c.-368+62235G>A XP_011510387.1:n.-368+62235G>A
XM_005246931.3:c.-352+62235G>A XP_005246988.1:n.-352+62235G>A
XM_011512085.2:c.-368+62235G>A XP_011510387.1:n.-368+62235G>A
NM_020981.4:c.-352+62235G>A MANE Select NP_066191.1:n.-352+62235G>A
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