Canonical Allele Identifier: CA390746743

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87949865T>A , CM000676.2:g.87949865T>A	GRCh38
NC_000014.8:g.88416209T>A , CM000676.1:g.88416209T>A	GRCh37
NC_000014.7:g.87485962T>A	NCBI36
NG_011853.2:g.48699A>T
NG_011853.3:g.48699A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1318A>T MANE Select	NP_000144.2:p.Lys440Ter
ENST00000261304.7:c.1318A>T MANE Select	ENSP00000261304.2:p.Lys440Ter
NM_000153.3:c.1318A>T	NP_000144.2:p.Lys440Ter
NM_001201401.1:c.1249A>T	NP_001188330.1:p.Lys417Ter
NM_001201401.2:c.1249A>T	NP_001188330.1:p.Lys417Ter
NM_001201402.1:c.1240A>T	NP_001188331.1:p.Lys414Ter
NM_001201402.2:c.1240A>T	NP_001188331.1:p.Lys414Ter
ENST00000261304.6:c.1318A>T	ENSP00000261304.2:p.Lys440Ter
ENST00000393568.8:c.1249A>T	ENSP00000377198.4:p.Lys417Ter
ENST00000393569.6:c.1240A>T	ENSP00000377199.2:p.Lys414Ter
ENST00000544807.6:c.1150A>T	ENSP00000437513.2:p.Lys384Ter
ENST00000555000.5:c.685A>T	ENSP00000450472.1:p.Lys229Ter
ENST00000555179.1:c.35A>T
ENST00000557316.5:c.*716A>T	ENSP00000452314.1:n.*716A>T
XM_011536618.1:c.1150A>T	XP_011534920.1:p.Lys384Ter
XM_011536618.2:c.1150A>T	XP_011534920.1:p.Lys384Ter