Canonical Allele Identifier: CA2153346434
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87968344T= , CM000676.2:g.87968344T= GRCh38
NC_000014.8:g.88434688T= , CM000676.1:g.88434688T= GRCh37
NC_000014.7:g.87504441T= NCBI36
NG_011853.2:g.30220A=
NG_011853.3:g.30220A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.899A= MANE Select ENSP00000261304.2:p.Tyr300=
ENST00000261304.6:c.899A= ENSP00000261304.2:p.Tyr300=
ENST00000393568.8:c.830A= ENSP00000377198.4:p.Tyr277=
ENST00000393569.6:c.821A= ENSP00000377199.2:p.Tyr274=
ENST00000474294.6:n.889A=
ENST00000544807.6:c.731A= ENSP00000437513.2:p.Tyr244=
ENST00000555000.5:c.266A= ENSP00000450472.1:p.Tyr89=
ENST00000557316.5:c.*297A= ENSP00000452314.1:n.*297A=
ENST00000622264.4:c.889A=
NM_000153.3:c.899A= NP_000144.2:p.Tyr300=
NM_001201401.1:c.830A= NP_001188330.1:p.Tyr277=
NM_001201402.1:c.821A= NP_001188331.1:p.Tyr274=
XM_011536618.1:c.731A= XP_011534920.1:p.Tyr244=
XM_011536618.2:c.731A= XP_011534920.1:p.Tyr244=
NM_000153.4:c.899A= MANE Select NP_000144.2:p.Tyr300=
NM_001201401.2:c.830A= NP_001188330.1:p.Tyr277=
NM_001201402.2:c.821A= NP_001188331.1:p.Tyr274=