Canonical Allele Identifier: CA264710623

Gene: GALC

Linked Data

• ClinVar Variation Id: 3006647
• ClinVar RCV Id: RCV003861262
• dbSNP Id: rs984059476
• gnomAD v4: 14-87982228-A-G
• MyVariant Identifiers: chr14:g.88448572A>G (hg19) ; chr14:g.87982228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982228A>G , CM000676.2:g.87982228A>G	GRCh38
NC_000014.8:g.88448572A>G , CM000676.1:g.88448572A>G	GRCh37
NC_000014.7:g.87518325A>G	NCBI36
NG_011853.2:g.16336T>C
NG_011853.3:g.16336T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.598T>C MANE Select	ENSP00000261304.2:p.Ser200Pro
ENST00000261304.6:c.598T>C	ENSP00000261304.2:p.Ser200Pro
ENST00000393568.8:c.529T>C	ENSP00000377198.4:p.Ser177Pro
ENST00000393569.6:c.520T>C	ENSP00000377199.2:p.Ser174Pro
ENST00000474294.6:n.588T>C
ENST00000544807.6:c.430T>C	ENSP00000437513.2:p.Ser144Pro
ENST00000554372.5:c.*347T>C	ENSP00000451884.1:n.*347T>C
ENST00000554916.5:n.477T>C
ENST00000556261.5:n.299T>C
ENST00000557316.5:c.598T>C	ENSP00000452314.1:p.Ser200Pro
ENST00000622264.4:c.588T>C
NM_000153.3:c.598T>C	NP_000144.2:p.Ser200Pro
NM_001201401.1:c.529T>C	NP_001188330.1:p.Ser177Pro
NM_001201402.1:c.520T>C	NP_001188331.1:p.Ser174Pro
XM_011536618.1:c.430T>C	XP_011534920.1:p.Ser144Pro
XM_011536618.2:c.430T>C	XP_011534920.1:p.Ser144Pro
NM_000153.4:c.598T>C MANE Select	NP_000144.2:p.Ser200Pro
NM_001201401.2:c.529T>C	NP_001188330.1:p.Ser177Pro
NM_001201402.2:c.520T>C	NP_001188331.1:p.Ser174Pro