Canonical Allele Identifier: CA487355691

Gene: GALC

Linked Data

• ClinVar Variation Id: 1535458
• ClinVar RCV Id: RCV002077781
• dbSNP Id: rs2139956762
• MyVariant Identifiers: chr14:g.88414199G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947855G>A , CM000676.2:g.87947855G>A	GRCh38
NC_000014.8:g.88414199G>A , CM000676.1:g.88414199G>A	GRCh37
NC_000014.7:g.87483952G>A	NCBI36
NG_011853.2:g.50709C>T
NG_011853.3:g.50709C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1362C>T MANE Select	ENSP00000261304.2:p.Phe454=
ENST00000261304.6:c.1362C>T	ENSP00000261304.2:p.Phe454=
ENST00000393568.8:c.1293C>T	ENSP00000377198.4:p.Phe431=
ENST00000393569.6:c.1284C>T	ENSP00000377199.2:p.Phe428=
ENST00000544807.6:c.1194C>T	ENSP00000437513.2:p.Phe398=
ENST00000555000.5:c.729C>T	ENSP00000450472.1:p.Phe243=
ENST00000555179.1:c.79C>T
ENST00000557316.5:c.*760C>T	ENSP00000452314.1:n.*760C>T
NM_000153.3:c.1362C>T	NP_000144.2:p.Phe454=
NM_001201401.1:c.1293C>T	NP_001188330.1:p.Phe431=
NM_001201402.1:c.1284C>T	NP_001188331.1:p.Phe428=
XM_011536618.1:c.1194C>T	XP_011534920.1:p.Phe398=
XM_011536618.2:c.1194C>T	XP_011534920.1:p.Phe398=
NM_000153.4:c.1362C>T MANE Select	NP_000144.2:p.Phe454=
NM_001201401.2:c.1293C>T	NP_001188330.1:p.Phe431=
NM_001201402.2:c.1284C>T	NP_001188331.1:p.Phe428=