Canonical Allele Identifier: CA390746642

Gene: GALC

Linked Data

• ClinVar Variation Id: 1384012
• ClinVar RCV Id: RCV001924735
• dbSNP Id: rs2139956768
• MyVariant Identifiers: chr14:g.88414203C>A (hg19) ; chr14:g.87947859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947859C>A , CM000676.2:g.87947859C>A	GRCh38
NC_000014.8:g.88414203C>A , CM000676.1:g.88414203C>A	GRCh37
NC_000014.7:g.87483956C>A	NCBI36
NG_011853.2:g.50705G>T
NG_011853.3:g.50705G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1358G>T MANE Select	ENSP00000261304.2:p.Ser453Ile
ENST00000261304.6:c.1358G>T	ENSP00000261304.2:p.Ser453Ile
ENST00000393568.8:c.1289G>T	ENSP00000377198.4:p.Ser430Ile
ENST00000393569.6:c.1280G>T	ENSP00000377199.2:p.Ser427Ile
ENST00000544807.6:c.1190G>T	ENSP00000437513.2:p.Ser397Ile
ENST00000555000.5:c.725G>T	ENSP00000450472.1:p.Ser242Ile
ENST00000555179.1:c.75G>T
ENST00000557316.5:c.*756G>T	ENSP00000452314.1:n.*756G>T
NM_000153.3:c.1358G>T	NP_000144.2:p.Ser453Ile
NM_001201401.1:c.1289G>T	NP_001188330.1:p.Ser430Ile
NM_001201402.1:c.1280G>T	NP_001188331.1:p.Ser427Ile
XM_011536618.1:c.1190G>T	XP_011534920.1:p.Ser397Ile
XM_011536618.2:c.1190G>T	XP_011534920.1:p.Ser397Ile
NM_000153.4:c.1358G>T MANE Select	NP_000144.2:p.Ser453Ile
NM_001201401.2:c.1289G>T	NP_001188330.1:p.Ser430Ile
NM_001201402.2:c.1280G>T	NP_001188331.1:p.Ser427Ile