Canonical Allele Identifier: CA487355555

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412025A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945681A>G , CM000676.2:g.87945681A>G	GRCh38
NC_000014.8:g.88412025A>G , CM000676.1:g.88412025A>G	GRCh37
NC_000014.7:g.87481778A>G	NCBI36
NG_011853.2:g.52883T>C
NG_011853.3:g.52883T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1542T>C MANE Select	ENSP00000261304.2:p.Phe514=
ENST00000261304.6:c.1542T>C	ENSP00000261304.2:p.Phe514=
ENST00000393568.8:c.1473T>C	ENSP00000377198.4:p.Phe491=
ENST00000393569.6:c.1464T>C	ENSP00000377199.2:p.Phe488=
ENST00000544807.6:c.1374T>C	ENSP00000437513.2:p.Phe458=
ENST00000555000.5:c.909T>C	ENSP00000450472.1:p.Phe303=
ENST00000555179.1:c.206+2047T>C
ENST00000557316.5:c.*940T>C	ENSP00000452314.1:n.*940T>C
NM_000153.3:c.1542T>C	NP_000144.2:p.Phe514=
NM_001201401.1:c.1473T>C	NP_001188330.1:p.Phe491=
NM_001201402.1:c.1464T>C	NP_001188331.1:p.Phe488=
XM_011536618.1:c.1374T>C	XP_011534920.1:p.Phe458=
XM_011536618.2:c.1374T>C	XP_011534920.1:p.Phe458=
NM_000153.4:c.1542T>C MANE Select	NP_000144.2:p.Phe514=
NM_001201401.2:c.1473T>C	NP_001188330.1:p.Phe491=
NM_001201402.2:c.1464T>C	NP_001188331.1:p.Phe488=