Canonical Allele Identifier: CA220412

Gene: GALC

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982249A>T , CM000676.2:g.87982249A>T	GRCh38
NC_000014.8:g.88448593A>T , CM000676.1:g.88448593A>T	GRCh37
NC_000014.7:g.87518346A>T	NCBI36
NG_011853.2:g.16315T>A
NG_011853.3:g.16315T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.583-6T>A MANE Select	ENSP00000261304.2:n.583-6T>A
ENST00000261304.6:c.583-6T>A	ENSP00000261304.2:n.583-6T>A
ENST00000393568.8:c.514-6T>A	ENSP00000377198.4:n.514-6T>A
ENST00000393569.6:c.505-6T>A	ENSP00000377199.2:n.505-6T>A
ENST00000474294.6:n.573-6T>A
ENST00000544807.6:c.415-6T>A	ENSP00000437513.2:n.415-6T>A
ENST00000554372.5:c.*332-6T>A	ENSP00000451884.1:n.*332-6T>A
ENST00000554916.5:n.462-6T>A
ENST00000556261.5:n.284-6T>A
ENST00000557316.5:c.583-6T>A	ENSP00000452314.1:n.583-6T>A
ENST00000622264.4:c.573-6T>A
NM_000153.3:c.583-6T>A	NP_000144.2:n.583-6T>A
NM_001201401.1:c.514-6T>A	NP_001188330.1:n.514-6T>A
NM_001201402.1:c.505-6T>A	NP_001188331.1:n.505-6T>A
XM_011536618.1:c.415-6T>A	XP_011534920.1:n.415-6T>A
XM_011536618.2:c.415-6T>A	XP_011534920.1:n.415-6T>A
NM_000153.4:c.583-6T>A MANE Select	NP_000144.2:n.583-6T>A
NM_001201401.2:c.514-6T>A	NP_001188330.1:n.514-6T>A
NM_001201402.2:c.505-6T>A	NP_001188331.1:n.505-6T>A