Canonical Allele Identifier: CA390749315

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442721T>A (hg19) ; chr14:g.87976377T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976377T>A , CM000676.2:g.87976377T>A	GRCh38
NC_000014.8:g.88442721T>A , CM000676.1:g.88442721T>A	GRCh37
NC_000014.7:g.87512474T>A	NCBI36
NG_011853.2:g.22187A>T
NG_011853.3:g.22187A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.733A>T MANE Select	ENSP00000261304.2:p.Lys245Ter
ENST00000261304.6:c.733A>T	ENSP00000261304.2:p.Lys245Ter
ENST00000393568.8:c.664A>T	ENSP00000377198.4:p.Lys222Ter
ENST00000393569.6:c.655A>T	ENSP00000377199.2:p.Lys219Ter
ENST00000474294.6:n.723A>T
ENST00000477716.3:n.488A>T
ENST00000544807.6:c.565A>T	ENSP00000437513.2:p.Lys189Ter
ENST00000554916.5:n.612A>T
ENST00000555000.5:c.100A>T	ENSP00000450472.1:p.Lys34Ter
ENST00000557316.5:c.*131A>T	ENSP00000452314.1:n.*131A>T
ENST00000622264.4:c.723A>T
NM_000153.3:c.733A>T	NP_000144.2:p.Lys245Ter
NM_001201401.1:c.664A>T	NP_001188330.1:p.Lys222Ter
NM_001201402.1:c.655A>T	NP_001188331.1:p.Lys219Ter
XM_011536618.1:c.565A>T	XP_011534920.1:p.Lys189Ter
XM_011536618.2:c.565A>T	XP_011534920.1:p.Lys189Ter
NM_000153.4:c.733A>T MANE Select	NP_000144.2:p.Lys245Ter
NM_001201401.2:c.664A>T	NP_001188330.1:p.Lys222Ter
NM_001201402.2:c.655A>T	NP_001188331.1:p.Lys219Ter