Canonical Allele Identifier: CA2153381831
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976542T= , CM000676.2:g.87976542T= GRCh38
NC_000014.8:g.88442886T= , CM000676.1:g.88442886T= GRCh37
NC_000014.7:g.87512639T= NCBI36
NG_011853.2:g.22022A=
NG_011853.3:g.22022A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.622-54A= MANE Select ENSP00000261304.2:n.622-54A=
ENST00000261304.6:c.622-54A= ENSP00000261304.2:n.622-54A=
ENST00000393568.8:c.553-54A= ENSP00000377198.4:n.553-54A=
ENST00000393569.6:c.544-54A= ENSP00000377199.2:n.544-54A=
ENST00000474294.6:n.612-54A=
ENST00000477716.3:n.323A=
ENST00000544807.6:c.454-54A= ENSP00000437513.2:n.454-54A=
ENST00000554916.5:n.501-54A=
ENST00000555000.5:c.-12-54A= ENSP00000450472.1:n.-12-54A=
ENST00000557316.5:c.*20-54A= ENSP00000452314.1:n.*20-54A=
ENST00000622264.4:c.612-54A=
NM_000153.3:c.622-54A= NP_000144.2:n.622-54A=
NM_001201401.1:c.553-54A= NP_001188330.1:n.553-54A=
NM_001201402.1:c.544-54A= NP_001188331.1:n.544-54A=
XM_011536618.1:c.454-54A= XP_011534920.1:n.454-54A=
XM_011536618.2:c.454-54A= XP_011534920.1:n.454-54A=
NM_000153.4:c.622-54A= MANE Select NP_000144.2:n.622-54A=
NM_001201401.2:c.553-54A= NP_001188330.1:n.553-54A=
NM_001201402.2:c.544-54A= NP_001188331.1:n.544-54A=