Canonical Allele Identifier: CA7297538

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87993162C>T , CM000676.2:g.87993162C>T	GRCh38
NC_000014.8:g.88459506C>T , CM000676.1:g.88459506C>T	GRCh37
NC_000014.7:g.87529259C>T	NCBI36
NG_011853.2:g.5402G>A
NG_011853.3:g.5402G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.3G>A MANE Select	NP_000144.2:p.Met1Ile
ENST00000261304.7:c.3G>A MANE Select	ENSP00000261304.2:p.Met1Ile
NM_000153.3:c.3G>A	NP_000144.2:p.Met1Ile
NM_001201401.1:c.3G>A	NP_001188330.1:p.Met1Ile
NM_001201401.2:c.3G>A	NP_001188330.1:p.Met1Ile
NM_001201402.1:c.117+221G>A	NP_001188331.1:n.117+221G>A
NM_001201402.2:c.117+221G>A	NP_001188331.1:n.117+221G>A
ENST00000261304.6:c.3G>A	ENSP00000261304.2:p.Met1Ile
ENST00000393568.8:c.3G>A	ENSP00000377198.4:p.Met1Ile
ENST00000393569.6:c.117+221G>A	ENSP00000377199.2:n.117+221G>A
ENST00000554372.5:c.3G>A	ENSP00000451884.1:p.Met1Ile
ENST00000557316.5:c.3G>A	ENSP00000452314.1:p.Met1Ile