Canonical Allele Identifier: CA390746613

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414190G>C (hg19) ; chr14:g.87947846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947846G>C , CM000676.2:g.87947846G>C	GRCh38
NC_000014.8:g.88414190G>C , CM000676.1:g.88414190G>C	GRCh37
NC_000014.7:g.87483943G>C	NCBI36
NG_011853.2:g.50718C>G
NG_011853.3:g.50718C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1371C>G MANE Select	ENSP00000261304.2:p.Ser457Arg
ENST00000261304.6:c.1371C>G	ENSP00000261304.2:p.Ser457Arg
ENST00000393568.8:c.1302C>G	ENSP00000377198.4:p.Ser434Arg
ENST00000393569.6:c.1293C>G	ENSP00000377199.2:p.Ser431Arg
ENST00000544807.6:c.1203C>G	ENSP00000437513.2:p.Ser401Arg
ENST00000555000.5:c.738C>G	ENSP00000450472.1:p.Ser246Arg
ENST00000555179.1:c.88C>G
ENST00000557316.5:c.*769C>G	ENSP00000452314.1:n.*769C>G
NM_000153.3:c.1371C>G	NP_000144.2:p.Ser457Arg
NM_001201401.1:c.1302C>G	NP_001188330.1:p.Ser434Arg
NM_001201402.1:c.1293C>G	NP_001188331.1:p.Ser431Arg
XM_011536618.1:c.1203C>G	XP_011534920.1:p.Ser401Arg
XM_011536618.2:c.1203C>G	XP_011534920.1:p.Ser401Arg
NM_000153.4:c.1371C>G MANE Select	NP_000144.2:p.Ser457Arg
NM_001201401.2:c.1302C>G	NP_001188330.1:p.Ser434Arg
NM_001201402.2:c.1293C>G	NP_001188331.1:p.Ser431Arg