Canonical Allele Identifier: CA337825033

Gene: B3GALT6

Linked Data

• gnomAD v4: 1-1232669-A-G
• MyVariant Identifiers: chr1:g.1168049A>G (hg19) ; chr1:g.1232669A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1232669A>G , CM000663.2:g.1232669A>G	GRCh38
NC_000001.10:g.1168049A>G , CM000663.1:g.1168049A>G	GRCh37
NC_000001.9:g.1157912A>G	NCBI36
NG_030007.1:g.4399T>C
NG_033265.1:g.5421A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379198.5:c.391A>G MANE Select	ENSP00000368496.2:p.Asn131Asp
ENST00000379198.3:c.391A>G	ENSP00000368496.2:p.Asn131Asp
NM_080605.3:c.391A>G	NP_542172.2:p.Asn131Asp
NM_080605.4:c.391A>G MANE Select	NP_542172.2:p.Asn131Asp