Canonical Allele Identifier: CA2153345175
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87965486A= , CM000676.2:g.87965486A= GRCh38
NC_000014.8:g.88431830A= , CM000676.1:g.88431830A= GRCh37
NC_000014.7:g.87501583A= NCBI36
NG_011853.2:g.33078T=
NG_011853.3:g.33078T=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1033+19T= MANE Select ENSP00000261304.2:n.1033+19T=
ENST00000261304.6:c.1033+19T= ENSP00000261304.2:n.1033+19T=
ENST00000393568.8:c.964+19T= ENSP00000377198.4:n.964+19T=
ENST00000393569.6:c.955+19T= ENSP00000377199.2:n.955+19T=
ENST00000474294.6:n.1023+19T=
ENST00000544807.6:c.865+19T= ENSP00000437513.2:n.865+19T=
ENST00000555000.5:c.400+19T= ENSP00000450472.1:n.400+19T=
ENST00000557316.5:c.*431+19T= ENSP00000452314.1:n.*431+19T=
ENST00000557520.1:n.119+19T=
ENST00000622264.4:c.1023+19T=
NM_000153.3:c.1033+19T= NP_000144.2:n.1033+19T=
NM_001201401.1:c.964+19T= NP_001188330.1:n.964+19T=
NM_001201402.1:c.955+19T= NP_001188331.1:n.955+19T=
XM_011536618.1:c.865+19T= XP_011534920.1:n.865+19T=
XM_011536618.2:c.865+19T= XP_011534920.1:n.865+19T=
NM_000153.4:c.1033+19T= MANE Select NP_000144.2:n.1033+19T=
NM_001201401.2:c.964+19T= NP_001188330.1:n.964+19T=
NM_001201402.2:c.955+19T= NP_001188331.1:n.955+19T=