Canonical Allele Identifier: CA390749430

Gene: GALC

Linked Data

• gnomAD v4: 14-87976400-A-T
• MyVariant Identifiers: chr14:g.88442744A>T (hg19) ; chr14:g.87976400A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976400A>T , CM000676.2:g.87976400A>T	GRCh38
NC_000014.8:g.88442744A>T , CM000676.1:g.88442744A>T	GRCh37
NC_000014.7:g.87512497A>T	NCBI36
NG_011853.2:g.22164T>A
NG_011853.3:g.22164T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.710T>A MANE Select	ENSP00000261304.2:p.Met237Lys
ENST00000261304.6:c.710T>A	ENSP00000261304.2:p.Met237Lys
ENST00000393568.8:c.641T>A	ENSP00000377198.4:p.Met214Lys
ENST00000393569.6:c.632T>A	ENSP00000377199.2:p.Met211Lys
ENST00000474294.6:n.700T>A
ENST00000477716.3:n.465T>A
ENST00000544807.6:c.542T>A	ENSP00000437513.2:p.Met181Lys
ENST00000554916.5:n.589T>A
ENST00000555000.5:c.77T>A	ENSP00000450472.1:p.Met26Lys
ENST00000557316.5:c.*108T>A	ENSP00000452314.1:n.*108T>A
ENST00000622264.4:c.700T>A
NM_000153.3:c.710T>A	NP_000144.2:p.Met237Lys
NM_001201401.1:c.641T>A	NP_001188330.1:p.Met214Lys
NM_001201402.1:c.632T>A	NP_001188331.1:p.Met211Lys
XM_011536618.1:c.542T>A	XP_011534920.1:p.Met181Lys
XM_011536618.2:c.542T>A	XP_011534920.1:p.Met181Lys
NM_000153.4:c.710T>A MANE Select	NP_000144.2:p.Met237Lys
NM_001201401.2:c.641T>A	NP_001188330.1:p.Met214Lys
NM_001201402.2:c.632T>A	NP_001188331.1:p.Met211Lys