Canonical Allele Identifier: CA390745068

Gene: GALC

Linked Data

• ClinVar Variation Id: 2704425
• ClinVar RCV Id: RCV003503563
• MyVariant Identifiers: chr14:g.88401076T>G (hg19) ; chr14:g.87934732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934732T>G , CM000676.2:g.87934732T>G	GRCh38
NC_000014.8:g.88401076T>G , CM000676.1:g.88401076T>G	GRCh37
NC_000014.7:g.87470829T>G	NCBI36
NG_011853.2:g.63832A>C
NG_011853.3:g.63832A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.2058A>C MANE Select	ENSP00000261304.2:p.Ter686Tyr
ENST00000261304.6:c.2058A>C	ENSP00000261304.2:p.Ter686Tyr
ENST00000393568.8:c.1989A>C	ENSP00000377198.4:p.Ter663Tyr
ENST00000393569.6:c.1980A>C	ENSP00000377199.2:p.Ter660Tyr
ENST00000544807.6:c.1744-733A>C	ENSP00000437513.2:n.1744-733A>C
ENST00000555000.5:c.1279-733A>C	ENSP00000450472.1:n.1279-733A>C
NM_000153.3:c.2058A>C	NP_000144.2:p.Ter686Tyr
NM_001201401.1:c.1989A>C	NP_001188330.1:p.Ter663Tyr
NM_001201402.1:c.1980A>C	NP_001188331.1:p.Ter660Tyr
XM_011536618.1:c.1890A>C	XP_011534920.1:p.Ter630Tyr
XM_011536618.2:c.1890A>C	XP_011534920.1:p.Ter630Tyr
NM_000153.4:c.2058A>C MANE Select	NP_000144.2:p.Ter686Tyr
NM_001201401.2:c.1989A>C	NP_001188330.1:p.Ter663Tyr
NM_001201402.2:c.1980A>C	NP_001188331.1:p.Ter660Tyr