Canonical Allele Identifier: CA1148810531
Gene: B3GALT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232671C= , CM000663.2:g.1232671C= GRCh38
NC_000001.10:g.1168051C= , CM000663.1:g.1168051C= GRCh37
NC_000001.9:g.1157914C= NCBI36
NG_030007.1:g.4397G=
NG_033265.1:g.5423C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.393C= MANE Select ENSP00000368496.2:p.Asn131=
ENST00000379198.3:c.393C= ENSP00000368496.2:p.Asn131=
NM_080605.3:c.393C= NP_542172.2:p.Asn131=
NM_080605.4:c.393C= MANE Select NP_542172.2:p.Asn131=
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