Canonical Allele Identifier: CA415761517

Gene: B3GALT6

Linked Data

• MyVariant Identifiers: chr1:g.1167991G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232611G>T , CM000663.2:g.1232611G>T	GRCh38
NC_000001.10:g.1167991G>T , CM000663.1:g.1167991G>T	GRCh37
NC_000001.9:g.1157854G>T	NCBI36
NG_030007.1:g.4457C>A
NG_033265.1:g.5363G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.333G>T MANE Select	ENSP00000368496.2:p.Arg111=
ENST00000379198.3:c.333G>T	ENSP00000368496.2:p.Arg111=
NM_080605.3:c.333G>T	NP_542172.2:p.Arg111=
NM_080605.4:c.333G>T MANE Select	NP_542172.2:p.Arg111=