Canonical Allele Identifier: CA337824229

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232579-C-A
• MyVariant Identifiers: chr1:g.1167959C>A (hg19) ; chr1:g.1232579C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232579C>A , CM000663.2:g.1232579C>A	GRCh38
NC_000001.10:g.1167959C>A , CM000663.1:g.1167959C>A	GRCh37
NC_000001.9:g.1157822C>A	NCBI36
NG_030007.1:g.4489G>T
NG_033265.1:g.5331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.301C>A MANE Select	ENSP00000368496.2:p.Leu101Met
ENST00000379198.3:c.301C>A	ENSP00000368496.2:p.Leu101Met
NM_080605.3:c.301C>A	NP_542172.2:p.Leu101Met
NM_080605.4:c.301C>A MANE Select	NP_542172.2:p.Leu101Met