Canonical Allele Identifier: CA390746290

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412053G>C (hg19) ; chr14:g.87945709G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945709G>C , CM000676.2:g.87945709G>C	GRCh38
NC_000014.8:g.88412053G>C , CM000676.1:g.88412053G>C	GRCh37
NC_000014.7:g.87481806G>C	NCBI36
NG_011853.2:g.52855C>G
NG_011853.3:g.52855C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1514C>G MANE Select	ENSP00000261304.2:p.Pro505Arg
ENST00000261304.6:c.1514C>G	ENSP00000261304.2:p.Pro505Arg
ENST00000393568.8:c.1445C>G	ENSP00000377198.4:p.Pro482Arg
ENST00000393569.6:c.1436C>G	ENSP00000377199.2:p.Pro479Arg
ENST00000544807.6:c.1346C>G	ENSP00000437513.2:p.Pro449Arg
ENST00000555000.5:c.881C>G	ENSP00000450472.1:p.Pro294Arg
ENST00000555179.1:c.206+2019C>G
ENST00000557316.5:c.*912C>G	ENSP00000452314.1:n.*912C>G
NM_000153.3:c.1514C>G	NP_000144.2:p.Pro505Arg
NM_001201401.1:c.1445C>G	NP_001188330.1:p.Pro482Arg
NM_001201402.1:c.1436C>G	NP_001188331.1:p.Pro479Arg
XM_011536618.1:c.1346C>G	XP_011534920.1:p.Pro449Arg
XM_011536618.2:c.1346C>G	XP_011534920.1:p.Pro449Arg
NM_000153.4:c.1514C>G MANE Select	NP_000144.2:p.Pro505Arg
NM_001201401.2:c.1445C>G	NP_001188330.1:p.Pro482Arg
NM_001201402.2:c.1436C>G	NP_001188331.1:p.Pro479Arg