Canonical Allele Identifier: CA264674684

Gene: GALC

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934869_87934870delinsCA , CM000676.2:g.87934869_87934870delinsCA	GRCh38
NC_000014.8:g.88401213_88401214delinsCA , CM000676.1:g.88401213_88401214delinsCA	GRCh37
NC_000014.7:g.87470966_87470967delinsCA	NCBI36
NG_011853.2:g.63694_63695delinsTG
NG_011853.3:g.63694_63695delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1920_1921delinsTG MANE Select	ENSP00000261304.2:p.Thr641Ala
ENST00000261304.6:c.1920_1921delinsTG	ENSP00000261304.2:p.Thr641Ala
ENST00000393568.8:c.1851_1852delinsTG	ENSP00000377198.4:p.Thr618Ala
ENST00000393569.6:c.1842_1843delinsTG	ENSP00000377199.2:p.Thr615Ala
ENST00000544807.6:c.1744-871_1744-870delinsTG	ENSP00000437513.2:n.1744-871_1744-870delinsTG
ENST00000555000.5:c.1279-871_1279-870delinsTG	ENSP00000450472.1:n.1279-871_1279-870delinsTG
ENST00000555179.1:c.456_457delinsTG
NM_000153.3:c.1920_1921delinsTG	NP_000144.2:p.Thr641Ala
NM_001201401.1:c.1851_1852delinsTG	NP_001188330.1:p.Thr618Ala
NM_001201402.1:c.1842_1843delinsTG	NP_001188331.1:p.Thr615Ala
XM_011536618.1:c.1752_1753delinsTG	XP_011534920.1:p.Thr585Ala
XM_011536618.2:c.1752_1753delinsTG	XP_011534920.1:p.Thr585Ala
NM_000153.4:c.1920_1921delinsTG MANE Select	NP_000144.2:p.Thr641Ala
NM_001201401.2:c.1851_1852delinsTG	NP_001188330.1:p.Thr618Ala
NM_001201402.2:c.1842_1843delinsTG	NP_001188331.1:p.Thr615Ala