Canonical Allele Identifier: CA2153349683
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87933213A= , CM000676.2:g.87933213A= GRCh38
NC_000014.8:g.88399557A= , CM000676.1:g.88399557A= GRCh37
NC_000014.7:g.87469310A= NCBI36
NG_011853.2:g.65351T=
NG_011853.3:g.65351T=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.*1519T= MANE Select ENSP00000261304.2:n.*1519T=
ENST00000261304.6:c.*1519T= ENSP00000261304.2:n.*1519T=
ENST00000555000.5:c.*74+686T= ENSP00000450472.1:n.*74+686T=
NM_000153.3:c.*1519T= NP_000144.2:n.*1519T=
NM_001201401.1:c.*1519T= NP_001188330.1:n.*1519T=
NM_001201402.1:c.*1519T= NP_001188331.1:n.*1519T=
XM_011536618.1:c.*1519T= XP_011534920.1:n.*1519T=
XM_011536618.2:c.*1519T= XP_011534920.1:n.*1519T=
NM_000153.4:c.*1519T= MANE Select NP_000144.2:n.*1519T=
NM_001201401.2:c.*1519T= NP_001188330.1:n.*1519T=
NM_001201402.2:c.*1519T= NP_001188331.1:n.*1519T=