Canonical Allele Identifier: CA2153387308
Community Standard Title: NM_000153.4(GALC):c.328+1G=
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87988143C= , CM000676.2:g.87988143C= GRCh38
NC_000014.8:g.88454487C= , CM000676.1:g.88454487C= GRCh37
NC_000014.7:g.87524240C= NCBI36
NG_011853.2:g.10421G=
NG_011853.3:g.10421G=

Transcript Alleles

HGVS Amino-acid Change
NM_000153.4:c.328+1G= MANE Select NP_000144.2:n.328+1G=
ENST00000261304.7:c.328+1G= MANE Select ENSP00000261304.2:n.328+1G=
NM_000153.3:c.328+1G= NP_000144.2:n.328+1G=
NM_001201401.1:c.259+1G= NP_001188330.1:n.259+1G=
NM_001201401.2:c.259+1G= NP_001188330.1:n.259+1G=
NM_001201402.1:c.250+1G= NP_001188331.1:n.250+1G=
NM_001201402.2:c.250+1G= NP_001188331.1:n.250+1G=
ENST00000261304.6:c.328+1G= ENSP00000261304.2:n.328+1G=
ENST00000393568.8:c.259+1G= ENSP00000377198.4:n.259+1G=
ENST00000393569.6:c.250+1G= ENSP00000377199.2:n.250+1G=
ENST00000474294.6:n.318+1G=
ENST00000544807.6:c.160+1G= ENSP00000437513.2:n.160+1G=
ENST00000554372.5:c.328+1G= ENSP00000451884.1:n.328+1G=
ENST00000554916.5:n.207+1G=
ENST00000555956.1:n.134G=
ENST00000556261.5:n.29+1G=
ENST00000556879.5:c.388+1G= ENSP00000452208.1:n.388+1G=
ENST00000557316.5:c.328+1G= ENSP00000452314.1:n.328+1G=
ENST00000622264.4:c.318+1G=
XM_011536618.1:c.160+1G= XP_011534920.1:n.160+1G=
XM_011536618.2:c.160+1G= XP_011534920.1:n.160+1G=