Canonical Allele Identifier: CA390745364

Gene: GALC

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87934868G>C , CM000676.2:g.87934868G>C	GRCh38
NC_000014.8:g.88401212G>C , CM000676.1:g.88401212G>C	GRCh37
NC_000014.7:g.87470965G>C	NCBI36
NG_011853.2:g.63696C>G
NG_011853.3:g.63696C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1922C>G MANE Select	ENSP00000261304.2:p.Thr641Ser
ENST00000261304.6:c.1922C>G	ENSP00000261304.2:p.Thr641Ser
ENST00000393568.8:c.1853C>G	ENSP00000377198.4:p.Thr618Ser
ENST00000393569.6:c.1844C>G	ENSP00000377199.2:p.Thr615Ser
ENST00000544807.6:c.1744-869C>G	ENSP00000437513.2:n.1744-869C>G
ENST00000555000.5:c.1279-869C>G	ENSP00000450472.1:n.1279-869C>G
ENST00000555179.1:c.458C>G
NM_000153.3:c.1922C>G	NP_000144.2:p.Thr641Ser
NM_001201401.1:c.1853C>G	NP_001188330.1:p.Thr618Ser
NM_001201402.1:c.1844C>G	NP_001188331.1:p.Thr615Ser
XM_011536618.1:c.1754C>G	XP_011534920.1:p.Thr585Ser
XM_011536618.2:c.1754C>G	XP_011534920.1:p.Thr585Ser
NM_000153.4:c.1922C>G MANE Select	NP_000144.2:p.Thr641Ser
NM_001201401.2:c.1853C>G	NP_001188330.1:p.Thr618Ser
NM_001201402.2:c.1844C>G	NP_001188331.1:p.Thr615Ser