Canonical Allele Identifier: CA2153352729
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939987A= , CM000676.2:g.87939987A= GRCh38
NC_000014.8:g.88406331A= , CM000676.1:g.88406331A= GRCh37
NC_000014.7:g.87476084A= NCBI36
NG_011853.2:g.58577T=
NG_011853.3:g.58577T=

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1835-6T= MANE Select ENSP00000261304.2:n.1835-6T=
ENST00000261304.6:c.1835-6T= ENSP00000261304.2:n.1835-6T=
ENST00000393568.8:c.1766-6T= ENSP00000377198.4:n.1766-6T=
ENST00000393569.6:c.1757-6T= ENSP00000377199.2:n.1757-6T=
ENST00000544807.6:c.1667-6T= ENSP00000437513.2:n.1667-6T=
ENST00000555000.5:c.1202-6T= ENSP00000450472.1:n.1202-6T=
ENST00000555179.1:c.371-6T=
NM_000153.3:c.1835-6T= NP_000144.2:n.1835-6T=
NM_001201401.1:c.1766-6T= NP_001188330.1:n.1766-6T=
NM_001201402.1:c.1757-6T= NP_001188331.1:n.1757-6T=
XM_011536618.1:c.1667-6T= XP_011534920.1:n.1667-6T=
XM_011536618.2:c.1667-6T= XP_011534920.1:n.1667-6T=
NM_000153.4:c.1835-6T= MANE Select NP_000144.2:n.1835-6T=
NM_001201401.2:c.1766-6T= NP_001188330.1:n.1766-6T=
NM_001201402.2:c.1757-6T= NP_001188331.1:n.1757-6T=