Canonical Allele Identifier: CA337823552

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232507-C-G
• MyVariant Identifiers: chr1:g.1167887C>G (hg19) ; chr1:g.1232507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232507C>G , CM000663.2:g.1232507C>G	GRCh38
NC_000001.10:g.1167887C>G , CM000663.1:g.1167887C>G	GRCh37
NC_000001.9:g.1157750C>G	NCBI36
NG_030007.1:g.4561G>C
NG_033265.1:g.5259C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.229C>G MANE Select	ENSP00000368496.2:p.Arg77Gly
ENST00000379198.3:c.229C>G	ENSP00000368496.2:p.Arg77Gly
NM_080605.3:c.229C>G	NP_542172.2:p.Arg77Gly
NM_080605.4:c.229C>G MANE Select	NP_542172.2:p.Arg77Gly