Canonical Allele Identifier: CA390749817

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442828A>T (hg19) ; chr14:g.87976484A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976484A>T , CM000676.2:g.87976484A>T	GRCh38
NC_000014.8:g.88442828A>T , CM000676.1:g.88442828A>T	GRCh37
NC_000014.7:g.87512581A>T	NCBI36
NG_011853.2:g.22080T>A
NG_011853.3:g.22080T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.626T>A MANE Select	ENSP00000261304.2:p.Leu209Ter
ENST00000261304.6:c.626T>A	ENSP00000261304.2:p.Leu209Ter
ENST00000393568.8:c.557T>A	ENSP00000377198.4:p.Leu186Ter
ENST00000393569.6:c.548T>A	ENSP00000377199.2:p.Leu183Ter
ENST00000474294.6:n.616T>A
ENST00000477716.3:n.381T>A
ENST00000544807.6:c.458T>A	ENSP00000437513.2:p.Leu153Ter
ENST00000554916.5:n.505T>A
ENST00000555000.5:c.-8T>A	ENSP00000450472.1:n.-8T>A
ENST00000557316.5:c.*24T>A	ENSP00000452314.1:n.*24T>A
ENST00000622264.4:c.616T>A
NM_000153.3:c.626T>A	NP_000144.2:p.Leu209Ter
NM_001201401.1:c.557T>A	NP_001188330.1:p.Leu186Ter
NM_001201402.1:c.548T>A	NP_001188331.1:p.Leu183Ter
XM_011536618.1:c.458T>A	XP_011534920.1:p.Leu153Ter
XM_011536618.2:c.458T>A	XP_011534920.1:p.Leu153Ter
NM_000153.4:c.626T>A MANE Select	NP_000144.2:p.Leu209Ter
NM_001201401.2:c.557T>A	NP_001188330.1:p.Leu186Ter
NM_001201402.2:c.548T>A	NP_001188331.1:p.Leu183Ter