Canonical Allele Identifier: CA264674477

Gene: GALC

Linked Data

• ClinVar Variation Id: 2078132
• ClinVar RCV Id: RCV002988472
• dbSNP Id: rs970572144
• MyVariant Identifiers: chr14:g.88401077T>C (hg19) ; chr14:g.87934733T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934733T>C , CM000676.2:g.87934733T>C	GRCh38
NC_000014.8:g.88401077T>C , CM000676.1:g.88401077T>C	GRCh37
NC_000014.7:g.87470830T>C	NCBI36
NG_011853.2:g.63831A>G
NG_011853.3:g.63831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2057A>G MANE Select	ENSP00000261304.2:p.Ter686=
ENST00000261304.6:c.2057A>G	ENSP00000261304.2:p.Ter686=
ENST00000393568.8:c.1988A>G	ENSP00000377198.4:p.Ter663=
ENST00000393569.6:c.1979A>G	ENSP00000377199.2:p.Ter660=
ENST00000544807.6:c.1744-734A>G	ENSP00000437513.2:n.1744-734A>G
ENST00000555000.5:c.1279-734A>G	ENSP00000450472.1:n.1279-734A>G
NM_000153.3:c.2057A>G	NP_000144.2:p.Ter686=
NM_001201401.1:c.1988A>G	NP_001188330.1:p.Ter663=
NM_001201402.1:c.1979A>G	NP_001188331.1:p.Ter660=
XM_011536618.1:c.1889A>G	XP_011534920.1:p.Ter630=
XM_011536618.2:c.1889A>G	XP_011534920.1:p.Ter630=
NM_000153.4:c.2057A>G MANE Select	NP_000144.2:p.Ter686=
NM_001201401.2:c.1988A>G	NP_001188330.1:p.Ter663=
NM_001201402.2:c.1979A>G	NP_001188331.1:p.Ter660=