Canonical Allele Identifier: CA390749584

Gene: GALC

Linked Data

• gnomAD v4: 14-87976433-C-T
• MyVariant Identifiers: chr14:g.88442777C>T (hg19) ; chr14:g.87976433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976433C>T , CM000676.2:g.87976433C>T	GRCh38
NC_000014.8:g.88442777C>T , CM000676.1:g.88442777C>T	GRCh37
NC_000014.7:g.87512530C>T	NCBI36
NG_011853.2:g.22131G>A
NG_011853.3:g.22131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.677G>A MANE Select	ENSP00000261304.2:p.Ser226Asn
ENST00000261304.6:c.677G>A	ENSP00000261304.2:p.Ser226Asn
ENST00000393568.8:c.608G>A	ENSP00000377198.4:p.Ser203Asn
ENST00000393569.6:c.599G>A	ENSP00000377199.2:p.Ser200Asn
ENST00000474294.6:n.667G>A
ENST00000477716.3:n.432G>A
ENST00000544807.6:c.509G>A	ENSP00000437513.2:p.Ser170Asn
ENST00000554916.5:n.556G>A
ENST00000555000.5:c.44G>A	ENSP00000450472.1:p.Ser15Asn
ENST00000557316.5:c.*75G>A	ENSP00000452314.1:n.*75G>A
ENST00000622264.4:c.667G>A
NM_000153.3:c.677G>A	NP_000144.2:p.Ser226Asn
NM_001201401.1:c.608G>A	NP_001188330.1:p.Ser203Asn
NM_001201402.1:c.599G>A	NP_001188331.1:p.Ser200Asn
XM_011536618.1:c.509G>A	XP_011534920.1:p.Ser170Asn
XM_011536618.2:c.509G>A	XP_011534920.1:p.Ser170Asn
NM_000153.4:c.677G>A MANE Select	NP_000144.2:p.Ser226Asn
NM_001201401.2:c.608G>A	NP_001188330.1:p.Ser203Asn
NM_001201402.2:c.599G>A	NP_001188331.1:p.Ser200Asn