Canonical Allele Identifier: CA1844939362
Community Standard Title: NM_001497.4(B4GALT1):c.649-4268A=
Gene: B4GALT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.33124874T= , CM000671.2:g.33124874T= GRCh38
NC_000009.11:g.33124872T= , CM000671.1:g.33124872T= GRCh37
NC_000009.10:g.33114872T= NCBI36
NG_008919.1:g.47485A=

Transcript Alleles

HGVS Amino-acid Change
NM_001497.4:c.649-4268A= MANE Select NP_001488.2:n.649-4268A=
ENST00000379731.5:c.649-4268A= MANE Select ENSP00000369055.4:n.649-4268A=
NM_001378495.1:c.610-4268A= NP_001365424.1:n.610-4268A=
NM_001378496.1:c.649-4268A= NP_001365425.1:n.649-4268A=
NM_001378497.1:c.648+10315A= NP_001365426.1:n.648+10315A=
NM_001497.3:c.649-4268A= NP_001488.2:n.649-4268A=
ENST00000379731.4:c.649-4268A= ENSP00000369055.4:n.649-4268A=
ENST00000535206.5:c.648+10315A= ENSP00000440341.1:n.648+10315A=
XM_005251440.3:c.649-4268A= XP_005251497.1:n.649-4268A=
XM_005251440.5:c.649-4268A= XP_005251497.1:n.649-4268A=