Canonical Allele Identifier: CA658824345
Gene: GALC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87949911dup , CM000676.2:g.87949911dup GRCh38
NC_000014.8:g.88416255dup , CM000676.1:g.88416255dup GRCh37
NC_000014.7:g.87486008dup NCBI36
NG_011853.2:g.48654dup
NG_011853.3:g.48654dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261304.7:c.1273dup MANE Select ENSP00000261304.2:p.Val425GlyfsTer16
ENST00000261304.6:c.1273dup ENSP00000261304.2:p.Val425GlyfsTer16
ENST00000393568.8:c.1204dup ENSP00000377198.4:p.Val402GlyfsTer16
ENST00000393569.6:c.1195dup ENSP00000377199.2:p.Val399GlyfsTer16
ENST00000544807.6:c.1105dup ENSP00000437513.2:p.Val369GlyfsTer16
ENST00000555000.5:c.640dup ENSP00000450472.1:p.Val214GlyfsTer16
ENST00000557316.5:c.*671dup ENSP00000452314.1:n.*671dup
NM_000153.3:c.1273dup NP_000144.2:p.Val425GlyfsTer16
NM_001201401.1:c.1204dup NP_001188330.1:p.Val402GlyfsTer16
NM_001201402.1:c.1195dup NP_001188331.1:p.Val399GlyfsTer16
XM_011536618.1:c.1105dup XP_011534920.1:p.Val369GlyfsTer16
XM_011536618.2:c.1105dup XP_011534920.1:p.Val369GlyfsTer16
NM_000153.4:c.1273dup MANE Select NP_000144.2:p.Val425GlyfsTer16
NM_001201401.2:c.1204dup NP_001188330.1:p.Val402GlyfsTer16
NM_001201402.2:c.1195dup NP_001188331.1:p.Val399GlyfsTer16