Canonical Allele Identifier: CA2153384495
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87982089T= , CM000676.2:g.87982089T= GRCh38
NC_000014.8:g.88448433T= , CM000676.1:g.88448433T= GRCh37
NC_000014.7:g.87518186T= NCBI36
NG_011853.2:g.16475A=
NG_011853.3:g.16475A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.621+116A= MANE Select ENSP00000261304.2:n.621+116A=
ENST00000261304.6:c.621+116A= ENSP00000261304.2:n.621+116A=
ENST00000393568.8:c.552+116A= ENSP00000377198.4:n.552+116A=
ENST00000393569.6:c.543+116A= ENSP00000377199.2:n.543+116A=
ENST00000474294.6:n.611+116A=
ENST00000544807.6:c.453+116A= ENSP00000437513.2:n.453+116A=
ENST00000554916.5:n.500+116A=
ENST00000556261.5:n.322+116A=
ENST00000557316.5:c.621+116A= ENSP00000452314.1:n.621+116A=
ENST00000622264.4:c.611+116A=
NM_000153.3:c.621+116A= NP_000144.2:n.621+116A=
NM_001201401.1:c.552+116A= NP_001188330.1:n.552+116A=
NM_001201402.1:c.543+116A= NP_001188331.1:n.543+116A=
XM_011536618.1:c.453+116A= XP_011534920.1:n.453+116A=
XM_011536618.2:c.453+116A= XP_011534920.1:n.453+116A=
NM_000153.4:c.621+116A= MANE Select NP_000144.2:n.621+116A=
NM_001201401.2:c.552+116A= NP_001188330.1:n.552+116A=
NM_001201402.2:c.543+116A= NP_001188331.1:n.543+116A=