Canonical Allele Identifier: CA760350902

Gene: B3GALT1

Linked Data

• dbSNP Id: rs1295711156
• gnomAD v3: 2-167709189-T-C
• gnomAD v4: 2-167709189-T-C
• MyVariant Identifiers: chr2:g.168565699T>C (hg19) ; chr2:g.167709189T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.167709189T>C , CM000664.2:g.167709189T>C	GRCh38
NC_000002.11:g.168565699T>C , CM000664.1:g.168565699T>C	GRCh37
NC_000002.10:g.168273945T>C	NCBI36
NG_050644.1:g.421129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392690.4:c.-352+62223T>C MANE Select	ENSP00000376456.2:n.-352+62223T>C
XM_005246931.2:c.-352+62223T>C	XP_005246988.1:n.-352+62223T>C
XM_011512084.1:c.-352+62223T>C	XP_011510386.1:n.-352+62223T>C
XM_011512085.1:c.-368+62223T>C	XP_011510387.1:n.-368+62223T>C
XM_005246931.3:c.-352+62223T>C	XP_005246988.1:n.-352+62223T>C
XM_011512085.2:c.-368+62223T>C	XP_011510387.1:n.-368+62223T>C
NM_020981.4:c.-352+62223T>C MANE Select	NP_066191.1:n.-352+62223T>C