Canonical Allele Identifier: CA390747605

Gene: GALC

Linked Data

• ClinVar Variation Id: 2137615
• ClinVar RCV Id: RCV003041210
• MyVariant Identifiers: chr14:g.88431944T>C (hg19) ; chr14:g.87965600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965600T>C , CM000676.2:g.87965600T>C	GRCh38
NC_000014.8:g.88431944T>C , CM000676.1:g.88431944T>C	GRCh37
NC_000014.7:g.87501697T>C	NCBI36
NG_011853.2:g.32964A>G
NG_011853.3:g.32964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.938A>G MANE Select	ENSP00000261304.2:p.Tyr313Cys
ENST00000261304.6:c.938A>G	ENSP00000261304.2:p.Tyr313Cys
ENST00000393568.8:c.869A>G	ENSP00000377198.4:p.Tyr290Cys
ENST00000393569.6:c.860A>G	ENSP00000377199.2:p.Tyr287Cys
ENST00000474294.6:n.928A>G
ENST00000544807.6:c.770A>G	ENSP00000437513.2:p.Tyr257Cys
ENST00000555000.5:c.305A>G	ENSP00000450472.1:p.Tyr102Cys
ENST00000557316.5:c.*336A>G	ENSP00000452314.1:n.*336A>G
ENST00000557520.1:n.24A>G
ENST00000622264.4:c.928A>G
NM_000153.3:c.938A>G	NP_000144.2:p.Tyr313Cys
NM_001201401.1:c.869A>G	NP_001188330.1:p.Tyr290Cys
NM_001201402.1:c.860A>G	NP_001188331.1:p.Tyr287Cys
XM_011536618.1:c.770A>G	XP_011534920.1:p.Tyr257Cys
XM_011536618.2:c.770A>G	XP_011534920.1:p.Tyr257Cys
NM_000153.4:c.938A>G MANE Select	NP_000144.2:p.Tyr313Cys
NM_001201401.2:c.869A>G	NP_001188330.1:p.Tyr290Cys
NM_001201402.2:c.860A>G	NP_001188331.1:p.Tyr287Cys