Canonical Allele Identifier: CA337824947

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232659-C-G
• MyVariant Identifiers: chr1:g.1168039C>G (hg19) ; chr1:g.1232659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232659C>G , CM000663.2:g.1232659C>G	GRCh38
NC_000001.10:g.1168039C>G , CM000663.1:g.1168039C>G	GRCh37
NC_000001.9:g.1157902C>G	NCBI36
NG_030007.1:g.4409G>C
NG_033265.1:g.5411C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.381C>G MANE Select	ENSP00000368496.2:p.Asp127Glu
ENST00000379198.3:c.381C>G	ENSP00000368496.2:p.Asp127Glu
NM_080605.3:c.381C>G	NP_542172.2:p.Asp127Glu
NM_080605.4:c.381C>G MANE Select	NP_542172.2:p.Asp127Glu