Canonical Allele Identifier: CA390746331

Gene: GALC

Linked Data

• ClinVar Variation Id: 1360066
• ClinVar RCV Id: RCV001904694
• dbSNP Id: rs2139951685
• MyVariant Identifiers: chr14:g.88412071G>A (hg19) ; chr14:g.87945727G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945727G>A , CM000676.2:g.87945727G>A	GRCh38
NC_000014.8:g.88412071G>A , CM000676.1:g.88412071G>A	GRCh37
NC_000014.7:g.87481824G>A	NCBI36
NG_011853.2:g.52837C>T
NG_011853.3:g.52837C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1496C>T MANE Select	ENSP00000261304.2:p.Pro499Leu
ENST00000261304.6:c.1496C>T	ENSP00000261304.2:p.Pro499Leu
ENST00000393568.8:c.1427C>T	ENSP00000377198.4:p.Pro476Leu
ENST00000393569.6:c.1418C>T	ENSP00000377199.2:p.Pro473Leu
ENST00000544807.6:c.1328C>T	ENSP00000437513.2:p.Pro443Leu
ENST00000555000.5:c.863C>T	ENSP00000450472.1:p.Pro288Leu
ENST00000555179.1:c.206+2001C>T
ENST00000557316.5:c.*894C>T	ENSP00000452314.1:n.*894C>T
NM_000153.3:c.1496C>T	NP_000144.2:p.Pro499Leu
NM_001201401.1:c.1427C>T	NP_001188330.1:p.Pro476Leu
NM_001201402.1:c.1418C>T	NP_001188331.1:p.Pro473Leu
XM_011536618.1:c.1328C>T	XP_011534920.1:p.Pro443Leu
XM_011536618.2:c.1328C>T	XP_011534920.1:p.Pro443Leu
NM_000153.4:c.1496C>T MANE Select	NP_000144.2:p.Pro499Leu
NM_001201401.2:c.1427C>T	NP_001188330.1:p.Pro476Leu
NM_001201402.2:c.1418C>T	NP_001188331.1:p.Pro473Leu