Canonical Allele Identifier: CA144521

Gene: B3GALT6

Linked Data

• ClinVar Variation Id: 60484
• ClinVar RCV Id: RCV000054390 ; RCV001560169 ; RCV001853073 ; RCV003944971
• dbSNP Id: rs786200938
• gnomAD v2: 1-1167659-A-G
• gnomAD v3: 1-1232279-A-G
• gnomAD v4: 1-1232279-A-G
• MyVariant Identifiers: chr1:g.1167659A>G (hg19) ; chr1:g.1232279A>G (hg38)
• PubMed: PMID:23664117

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232279A>G , CM000663.2:g.1232279A>G	GRCh38
NC_000001.10:g.1167659A>G , CM000663.1:g.1167659A>G	GRCh37
NC_000001.9:g.1157522A>G	NCBI36
NG_030007.1:g.4789T>C
NG_033265.1:g.5031A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.1A>G MANE Select	ENSP00000368496.2:p.Met1Val
ENST00000379198.3:c.1A>G	ENSP00000368496.2:p.Met1Val
NM_080605.3:c.1A>G	NP_542172.2:p.Met1Val
NM_080605.4:c.1A>G MANE Select	NP_542172.2:p.Met1Val