Canonical Allele Identifier: CA487355615

Gene: GALC

Linked Data

• ClinVar Variation Id: 2756376
• ClinVar RCV Id: RCV003503100
• MyVariant Identifiers: chr14:g.88414097A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947753A>G , CM000676.2:g.87947753A>G	GRCh38
NC_000014.8:g.88414097A>G , CM000676.1:g.88414097A>G	GRCh37
NC_000014.7:g.87483850A>G	NCBI36
NG_011853.2:g.50811T>C
NG_011853.3:g.50811T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1464T>C MANE Select	ENSP00000261304.2:p.Ser488=
ENST00000261304.6:c.1464T>C	ENSP00000261304.2:p.Ser488=
ENST00000393568.8:c.1395T>C	ENSP00000377198.4:p.Ser465=
ENST00000393569.6:c.1386T>C	ENSP00000377199.2:p.Ser462=
ENST00000544807.6:c.1296T>C	ENSP00000437513.2:p.Ser432=
ENST00000555000.5:c.831T>C	ENSP00000450472.1:p.Ser277=
ENST00000555179.1:c.181T>C
ENST00000557316.5:c.*862T>C	ENSP00000452314.1:n.*862T>C
NM_000153.3:c.1464T>C	NP_000144.2:p.Ser488=
NM_001201401.1:c.1395T>C	NP_001188330.1:p.Ser465=
NM_001201402.1:c.1386T>C	NP_001188331.1:p.Ser462=
XM_011536618.1:c.1296T>C	XP_011534920.1:p.Ser432=
XM_011536618.2:c.1296T>C	XP_011534920.1:p.Ser432=
NM_000153.4:c.1464T>C MANE Select	NP_000144.2:p.Ser488=
NM_001201401.2:c.1395T>C	NP_001188330.1:p.Ser465=
NM_001201402.2:c.1386T>C	NP_001188331.1:p.Ser462=