Canonical Allele Identifier: CA487355583

Gene: GALC

Linked Data

• dbSNP Id: rs1437196570
• gnomAD v3: 14-87945726-T-A
• gnomAD v4: 14-87945726-T-A
• MyVariant Identifiers: chr14:g.88412070T>A (hg19) ; chr14:g.87945726T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945726T>A , CM000676.2:g.87945726T>A	GRCh38
NC_000014.8:g.88412070T>A , CM000676.1:g.88412070T>A	GRCh37
NC_000014.7:g.87481823T>A	NCBI36
NG_011853.2:g.52838A>T
NG_011853.3:g.52838A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1497A>T MANE Select	ENSP00000261304.2:p.Pro499=
ENST00000261304.6:c.1497A>T	ENSP00000261304.2:p.Pro499=
ENST00000393568.8:c.1428A>T	ENSP00000377198.4:p.Pro476=
ENST00000393569.6:c.1419A>T	ENSP00000377199.2:p.Pro473=
ENST00000544807.6:c.1329A>T	ENSP00000437513.2:p.Pro443=
ENST00000555000.5:c.864A>T	ENSP00000450472.1:p.Pro288=
ENST00000555179.1:c.206+2002A>T
ENST00000557316.5:c.*895A>T	ENSP00000452314.1:n.*895A>T
NM_000153.3:c.1497A>T	NP_000144.2:p.Pro499=
NM_001201401.1:c.1428A>T	NP_001188330.1:p.Pro476=
NM_001201402.1:c.1419A>T	NP_001188331.1:p.Pro473=
XM_011536618.1:c.1329A>T	XP_011534920.1:p.Pro443=
XM_011536618.2:c.1329A>T	XP_011534920.1:p.Pro443=
NM_000153.4:c.1497A>T MANE Select	NP_000144.2:p.Pro499=
NM_001201401.2:c.1428A>T	NP_001188330.1:p.Pro476=
NM_001201402.2:c.1419A>T	NP_001188331.1:p.Pro473=