Canonical Allele Identifier: CA337824905

Gene: B3GALT6

Linked Data

• dbSNP Id: rs1298410447
• gnomAD v2: 1-1168034-C-T
• gnomAD v4: 1-1232654-C-T
• MyVariant Identifiers: chr1:g.1168034C>T (hg19) ; chr1:g.1232654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232654C>T , CM000663.2:g.1232654C>T	GRCh38
NC_000001.10:g.1168034C>T , CM000663.1:g.1168034C>T	GRCh37
NC_000001.9:g.1157897C>T	NCBI36
NG_030007.1:g.4414G>A
NG_033265.1:g.5406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.376C>T MANE Select	ENSP00000368496.2:p.Arg126Cys
ENST00000379198.3:c.376C>T	ENSP00000368496.2:p.Arg126Cys
NM_080605.3:c.376C>T	NP_542172.2:p.Arg126Cys
NM_080605.4:c.376C>T MANE Select	NP_542172.2:p.Arg126Cys