Canonical Allele Identifier: CA16041704

Gene: GALC

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986487A>C , CM000676.2:g.87986487A>C	GRCh38
NC_000014.8:g.88452831A>C , CM000676.1:g.88452831A>C	GRCh37
NC_000014.7:g.87522584A>C	NCBI36
NG_011853.2:g.12077T>G
NG_011853.3:g.12077T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.442+2T>G MANE Select	ENSP00000261304.2:n.442+2T>G
ENST00000261304.6:c.442+2T>G	ENSP00000261304.2:n.442+2T>G
ENST00000393568.8:c.373+2T>G	ENSP00000377198.4:n.373+2T>G
ENST00000393569.6:c.364+2T>G	ENSP00000377199.2:n.364+2T>G
ENST00000474294.6:n.432+2T>G
ENST00000544807.6:c.274+2T>G	ENSP00000437513.2:n.274+2T>G
ENST00000554372.5:c.*191+2T>G	ENSP00000451884.1:n.*191+2T>G
ENST00000554916.5:n.321+2T>G
ENST00000556261.5:n.143+2T>G
ENST00000556879.5:c.502+2T>G	ENSP00000452208.1:n.502+2T>G
ENST00000557316.5:c.442+2T>G	ENSP00000452314.1:n.442+2T>G
ENST00000622264.4:c.432+2T>G
NM_000153.3:c.442+2T>G	NP_000144.2:n.442+2T>G
NM_001201401.1:c.373+2T>G	NP_001188330.1:n.373+2T>G
NM_001201402.1:c.364+2T>G	NP_001188331.1:n.364+2T>G
XM_011536618.1:c.274+2T>G	XP_011534920.1:n.274+2T>G
XM_011536618.2:c.274+2T>G	XP_011534920.1:n.274+2T>G
NM_000153.4:c.442+2T>G MANE Select	NP_000144.2:n.442+2T>G
NM_001201401.2:c.373+2T>G	NP_001188330.1:n.373+2T>G
NM_001201402.2:c.364+2T>G	NP_001188331.1:n.364+2T>G