Canonical Allele Identifier: CA390749660

Gene: GALC

Linked Data

• ClinVar Variation Id: 1925164
• ClinVar RCV Id: RCV002618045
• gnomAD v4: 14-87976455-G-A
• MyVariant Identifiers: chr14:g.88442799G>A (hg19) ; chr14:g.87976455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976455G>A , CM000676.2:g.87976455G>A	GRCh38
NC_000014.8:g.88442799G>A , CM000676.1:g.88442799G>A	GRCh37
NC_000014.7:g.87512552G>A	NCBI36
NG_011853.2:g.22109C>T
NG_011853.3:g.22109C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.655C>T MANE Select	ENSP00000261304.2:p.Gln219Ter
ENST00000261304.6:c.655C>T	ENSP00000261304.2:p.Gln219Ter
ENST00000393568.8:c.586C>T	ENSP00000377198.4:p.Gln196Ter
ENST00000393569.6:c.577C>T	ENSP00000377199.2:p.Gln193Ter
ENST00000474294.6:n.645C>T
ENST00000477716.3:n.410C>T
ENST00000544807.6:c.487C>T	ENSP00000437513.2:p.Gln163Ter
ENST00000554916.5:n.534C>T
ENST00000555000.5:c.22C>T	ENSP00000450472.1:p.Gln8Ter
ENST00000557316.5:c.*53C>T	ENSP00000452314.1:n.*53C>T
ENST00000622264.4:c.645C>T
NM_000153.3:c.655C>T	NP_000144.2:p.Gln219Ter
NM_001201401.1:c.586C>T	NP_001188330.1:p.Gln196Ter
NM_001201402.1:c.577C>T	NP_001188331.1:p.Gln193Ter
XM_011536618.1:c.487C>T	XP_011534920.1:p.Gln163Ter
XM_011536618.2:c.487C>T	XP_011534920.1:p.Gln163Ter
NM_000153.4:c.655C>T MANE Select	NP_000144.2:p.Gln219Ter
NM_001201401.2:c.586C>T	NP_001188330.1:p.Gln196Ter
NM_001201402.2:c.577C>T	NP_001188331.1:p.Gln193Ter