Canonical Allele Identifier: CA2153381791
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976438T= , CM000676.2:g.87976438T= GRCh38
NC_000014.8:g.88442782T= , CM000676.1:g.88442782T= GRCh37
NC_000014.7:g.87512535T= NCBI36
NG_011853.2:g.22126A=
NG_011853.3:g.22126A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.672A= MANE Select ENSP00000261304.2:p.Ile224=
ENST00000261304.6:c.672A= ENSP00000261304.2:p.Ile224=
ENST00000393568.8:c.603A= ENSP00000377198.4:p.Ile201=
ENST00000393569.6:c.594A= ENSP00000377199.2:p.Ile198=
ENST00000474294.6:n.662A=
ENST00000477716.3:n.427A=
ENST00000544807.6:c.504A= ENSP00000437513.2:p.Ile168=
ENST00000554916.5:n.551A=
ENST00000555000.5:c.39A= ENSP00000450472.1:p.Ile13=
ENST00000557316.5:c.*70A= ENSP00000452314.1:n.*70A=
ENST00000622264.4:c.662A=
NM_000153.3:c.672A= NP_000144.2:p.Ile224=
NM_001201401.1:c.603A= NP_001188330.1:p.Ile201=
NM_001201402.1:c.594A= NP_001188331.1:p.Ile198=
XM_011536618.1:c.504A= XP_011534920.1:p.Ile168=
XM_011536618.2:c.504A= XP_011534920.1:p.Ile168=
NM_000153.4:c.672A= MANE Select NP_000144.2:p.Ile224=
NM_001201401.2:c.603A= NP_001188330.1:p.Ile201=
NM_001201402.2:c.594A= NP_001188331.1:p.Ile198=