Canonical Allele Identifier: CA390745323

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934848T>A , CM000676.2:g.87934848T>A	GRCh38
NC_000014.8:g.88401192T>A , CM000676.1:g.88401192T>A	GRCh37
NC_000014.7:g.87470945T>A	NCBI36
NG_011853.2:g.63716A>T
NG_011853.3:g.63716A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1942A>T MANE Select	NP_000144.2:p.Lys648Ter
ENST00000261304.7:c.1942A>T MANE Select	ENSP00000261304.2:p.Lys648Ter
NM_000153.3:c.1942A>T	NP_000144.2:p.Lys648Ter
NM_001201401.1:c.1873A>T	NP_001188330.1:p.Lys625Ter
NM_001201401.2:c.1873A>T	NP_001188330.1:p.Lys625Ter
NM_001201402.1:c.1864A>T	NP_001188331.1:p.Lys622Ter
NM_001201402.2:c.1864A>T	NP_001188331.1:p.Lys622Ter
ENST00000261304.6:c.1942A>T	ENSP00000261304.2:p.Lys648Ter
ENST00000393568.8:c.1873A>T	ENSP00000377198.4:p.Lys625Ter
ENST00000393569.6:c.1864A>T	ENSP00000377199.2:p.Lys622Ter
ENST00000544807.6:c.1744-849A>T	ENSP00000437513.2:n.1744-849A>T
ENST00000555000.5:c.1279-849A>T	ENSP00000450472.1:n.1279-849A>T
ENST00000555179.1:c.478A>T
XM_011536618.1:c.1774A>T	XP_011534920.1:p.Lys592Ter
XM_011536618.2:c.1774A>T	XP_011534920.1:p.Lys592Ter