Canonical Allele Identifier: CA2153381914
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976732A= , CM000676.2:g.87976732A= GRCh38
NC_000014.8:g.88443076A= , CM000676.1:g.88443076A= GRCh37
NC_000014.7:g.87512829A= NCBI36
NG_011853.2:g.21832T=
NG_011853.3:g.21832T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.622-244T= MANE Select ENSP00000261304.2:n.622-244T=
ENST00000261304.6:c.622-244T= ENSP00000261304.2:n.622-244T=
ENST00000393568.8:c.553-244T= ENSP00000377198.4:n.553-244T=
ENST00000393569.6:c.544-244T= ENSP00000377199.2:n.544-244T=
ENST00000474294.6:n.612-244T=
ENST00000477716.3:n.133T=
ENST00000544807.6:c.454-244T= ENSP00000437513.2:n.454-244T=
ENST00000554916.5:n.501-244T=
ENST00000555000.5:c.-12-244T= ENSP00000450472.1:n.-12-244T=
ENST00000557316.5:c.*20-244T= ENSP00000452314.1:n.*20-244T=
ENST00000622264.4:c.612-244T=
NM_000153.3:c.622-244T= NP_000144.2:n.622-244T=
NM_001201401.1:c.553-244T= NP_001188330.1:n.553-244T=
NM_001201402.1:c.544-244T= NP_001188331.1:n.544-244T=
XM_011536618.1:c.454-244T= XP_011534920.1:n.454-244T=
XM_011536618.2:c.454-244T= XP_011534920.1:n.454-244T=
NM_000153.4:c.622-244T= MANE Select NP_000144.2:n.622-244T=
NM_001201401.2:c.553-244T= NP_001188330.1:n.553-244T=
NM_001201402.2:c.544-244T= NP_001188331.1:n.544-244T=