Canonical Allele Identifier: CA2153350290
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87934684A= , CM000676.2:g.87934684A= GRCh38
NC_000014.8:g.88401028A= , CM000676.1:g.88401028A= GRCh37
NC_000014.7:g.87470781A= NCBI36
NG_011853.2:g.63880T=
NG_011853.3:g.63880T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.*48T= MANE Select ENSP00000261304.2:n.*48T=
ENST00000261304.6:c.*48T= ENSP00000261304.2:n.*48T=
ENST00000393568.8:c.*48T= ENSP00000377198.4:n.*48T=
ENST00000393569.6:c.*48T= ENSP00000377199.2:n.*48T=
ENST00000544807.6:c.1744-685T= ENSP00000437513.2:n.1744-685T=
ENST00000555000.5:c.1279-685T= ENSP00000450472.1:n.1279-685T=
NM_000153.3:c.*48T= NP_000144.2:n.*48T=
NM_001201401.1:c.*48T= NP_001188330.1:n.*48T=
NM_001201402.1:c.*48T= NP_001188331.1:n.*48T=
XM_011536618.1:c.*48T= XP_011534920.1:n.*48T=
XM_011536618.2:c.*48T= XP_011534920.1:n.*48T=
NM_000153.4:c.*48T= MANE Select NP_000144.2:n.*48T=
NM_001201401.2:c.*48T= NP_001188330.1:n.*48T=
NM_001201402.2:c.*48T= NP_001188331.1:n.*48T=