Canonical Allele Identifier: CA760350872

Gene: B3GALT1

Linked Data

• dbSNP Id: rs1200348403
• MyVariant Identifiers: chr2:g.168565648del (hg19) ; chr2:g.167709138del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.167709139del , CM000664.2:g.167709139del	GRCh38
NC_000002.11:g.168565649del , CM000664.1:g.168565649del	GRCh37
NC_000002.10:g.168273895del	NCBI36
NG_050644.1:g.421079del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392690.4:c.-352+62173del MANE Select	ENSP00000376456.2:n.-352+62173del
XM_005246931.2:c.-352+62173del	XP_005246988.1:n.-352+62173del
XM_011512084.1:c.-352+62173del	XP_011510386.1:n.-352+62173del
XM_011512085.1:c.-368+62173del	XP_011510387.1:n.-368+62173del
XM_005246931.3:c.-352+62173del	XP_005246988.1:n.-352+62173del
XM_011512085.2:c.-368+62173del	XP_011510387.1:n.-368+62173del
NM_020981.4:c.-352+62173del MANE Select	NP_066191.1:n.-352+62173del