Canonical Allele Identifier: CA513315

Gene: B3GALT6

Linked Data

• ClinVar Variation Id: 1454440
• ClinVar RCV Id: RCV001939494 ; RCV003893013
• dbSNP Id: rs764859016
• ExAC: 1:1167982 C / A
• gnomAD v2: 1-1167982-C-A
• gnomAD v3: 1-1232602-C-A
• gnomAD v4: 1-1232602-C-A
• MyVariant Identifiers: chr1:g.1167982C>A (hg19) ; chr1:g.1232602C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232602C>A , CM000663.2:g.1232602C>A	GRCh38
NC_000001.10:g.1167982C>A , CM000663.1:g.1167982C>A	GRCh37
NC_000001.9:g.1157845C>A	NCBI36
NG_030007.1:g.4466G>T
NG_033265.1:g.5354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.324C>A MANE Select	ENSP00000368496.2:p.Ala108=
ENST00000379198.3:c.324C>A	ENSP00000368496.2:p.Ala108=
NM_080605.3:c.324C>A	NP_542172.2:p.Ala108=
NM_080605.4:c.324C>A MANE Select	NP_542172.2:p.Ala108=