Canonical Allele Identifier: CA2153352685
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939905C= , CM000676.2:g.87939905C= GRCh38
NC_000014.8:g.88406249C= , CM000676.1:g.88406249C= GRCh37
NC_000014.7:g.87476002C= NCBI36
NG_011853.2:g.58659G=
NG_011853.3:g.58659G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1911G= MANE Select ENSP00000261304.2:p.Lys637=
ENST00000261304.6:c.1911G= ENSP00000261304.2:p.Lys637=
ENST00000393568.8:c.1842G= ENSP00000377198.4:p.Lys614=
ENST00000393569.6:c.1833G= ENSP00000377199.2:p.Lys611=
ENST00000544807.6:c.1743G= ENSP00000437513.2:p.Lys581=
ENST00000555000.5:c.1278G= ENSP00000450472.1:p.Lys426=
ENST00000555179.1:c.447G=
NM_000153.3:c.1911G= NP_000144.2:p.Lys637=
NM_001201401.1:c.1842G= NP_001188330.1:p.Lys614=
NM_001201402.1:c.1833G= NP_001188331.1:p.Lys611=
XM_011536618.1:c.1743G= XP_011534920.1:p.Lys581=
XM_011536618.2:c.1743G= XP_011534920.1:p.Lys581=
NM_000153.4:c.1911G= MANE Select NP_000144.2:p.Lys637=
NM_001201401.2:c.1842G= NP_001188330.1:p.Lys614=
NM_001201402.2:c.1833G= NP_001188331.1:p.Lys611=