Canonical Allele Identifier: CA390747686

Gene: GALC

Linked Data

• ClinVar Variation Id: 2698709
• ClinVar RCV Id: RCV003502920
• MyVariant Identifiers: chr14:g.88434682G>A (hg19) ; chr14:g.87968338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968338G>A , CM000676.2:g.87968338G>A	GRCh38
NC_000014.8:g.88434682G>A , CM000676.1:g.88434682G>A	GRCh37
NC_000014.7:g.87504435G>A	NCBI36
NG_011853.2:g.30226C>T
NG_011853.3:g.30226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.905C>T MANE Select	ENSP00000261304.2:p.Thr302Ile
ENST00000261304.6:c.905C>T	ENSP00000261304.2:p.Thr302Ile
ENST00000393568.8:c.836C>T	ENSP00000377198.4:p.Thr279Ile
ENST00000393569.6:c.827C>T	ENSP00000377199.2:p.Thr276Ile
ENST00000474294.6:n.895C>T
ENST00000544807.6:c.737C>T	ENSP00000437513.2:p.Thr246Ile
ENST00000555000.5:c.272C>T	ENSP00000450472.1:p.Thr91Ile
ENST00000557316.5:c.*303C>T	ENSP00000452314.1:n.*303C>T
ENST00000622264.4:c.895C>T
NM_000153.3:c.905C>T	NP_000144.2:p.Thr302Ile
NM_001201401.1:c.836C>T	NP_001188330.1:p.Thr279Ile
NM_001201402.1:c.827C>T	NP_001188331.1:p.Thr276Ile
XM_011536618.1:c.737C>T	XP_011534920.1:p.Thr246Ile
XM_011536618.2:c.737C>T	XP_011534920.1:p.Thr246Ile
NM_000153.4:c.905C>T MANE Select	NP_000144.2:p.Thr302Ile
NM_001201401.2:c.836C>T	NP_001188330.1:p.Thr279Ile
NM_001201402.2:c.827C>T	NP_001188331.1:p.Thr276Ile