Canonical Allele Identifier: CA390749748
Gene: GALC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87976474C>A , CM000676.2:g.87976474C>A GRCh38
NC_000014.8:g.88442818C>A , CM000676.1:g.88442818C>A GRCh37
NC_000014.7:g.87512571C>A NCBI36
NG_011853.2:g.22090G>T
NG_011853.3:g.22090G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.636G>T MANE Select ENSP00000261304.2:p.Met212Ile
ENST00000261304.6:c.636G>T ENSP00000261304.2:p.Met212Ile
ENST00000393568.8:c.567G>T ENSP00000377198.4:p.Met189Ile
ENST00000393569.6:c.558G>T ENSP00000377199.2:p.Met186Ile
ENST00000474294.6:n.626G>T
ENST00000477716.3:n.391G>T
ENST00000544807.6:c.468G>T ENSP00000437513.2:p.Met156Ile
ENST00000554916.5:n.515G>T
ENST00000555000.5:c.3G>T ENSP00000450472.1:p.Met1Ile
ENST00000557316.5:c.*34G>T ENSP00000452314.1:n.*34G>T
ENST00000622264.4:c.626G>T
NM_000153.3:c.636G>T NP_000144.2:p.Met212Ile
NM_001201401.1:c.567G>T NP_001188330.1:p.Met189Ile
NM_001201402.1:c.558G>T NP_001188331.1:p.Met186Ile
XM_011536618.1:c.468G>T XP_011534920.1:p.Met156Ile
XM_011536618.2:c.468G>T XP_011534920.1:p.Met156Ile
NM_000153.4:c.636G>T MANE Select NP_000144.2:p.Met212Ile
NM_001201401.2:c.567G>T NP_001188330.1:p.Met189Ile
NM_001201402.2:c.558G>T NP_001188331.1:p.Met186Ile