Canonical Allele Identifier: CA390745525
Gene: GALC HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.88406309A>T (hg19) chr14:g.87939965A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.87939965A>T , CM000676.2:g.87939965A>T GRCh38
NC_000014.8:g.88406309A>T , CM000676.1:g.88406309A>T GRCh37
NC_000014.7:g.87476062A>T NCBI36
NG_011853.2:g.58599T>A
NG_011853.3:g.58599T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261304.7:c.1851T>A MANE Select ENSP00000261304.2:p.Tyr617Ter
ENST00000261304.6:c.1851T>A ENSP00000261304.2:p.Tyr617Ter
ENST00000393568.8:c.1782T>A ENSP00000377198.4:p.Tyr594Ter
ENST00000393569.6:c.1773T>A ENSP00000377199.2:p.Tyr591Ter
ENST00000544807.6:c.1683T>A ENSP00000437513.2:p.Tyr561Ter
ENST00000555000.5:c.1218T>A ENSP00000450472.1:p.Tyr406Ter
ENST00000555179.1:c.387T>A
NM_000153.3:c.1851T>A NP_000144.2:p.Tyr617Ter
NM_001201401.1:c.1782T>A NP_001188330.1:p.Tyr594Ter
NM_001201402.1:c.1773T>A NP_001188331.1:p.Tyr591Ter
XM_011536618.1:c.1683T>A XP_011534920.1:p.Tyr561Ter
XM_011536618.2:c.1683T>A XP_011534920.1:p.Tyr561Ter
NM_000153.4:c.1851T>A MANE Select NP_000144.2:p.Tyr617Ter
NM_001201401.2:c.1782T>A NP_001188330.1:p.Tyr594Ter
NM_001201402.2:c.1773T>A NP_001188331.1:p.Tyr591Ter
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