Canonical Allele Identifier: CA7297129

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963318G>A , CM000676.2:g.87963318G>A	GRCh38
NC_000014.8:g.88429662G>A , CM000676.1:g.88429662G>A	GRCh37
NC_000014.7:g.87499415G>A	NCBI36
NG_011853.2:g.35246C>T
NG_011853.3:g.35246C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1161+66C>T MANE Select	ENSP00000261304.2:n.1161+66C>T
ENST00000261304.6:c.1161+66C>T	ENSP00000261304.2:n.1161+66C>T
ENST00000393568.8:c.1092+66C>T	ENSP00000377198.4:n.1092+66C>T
ENST00000393569.6:c.1083+66C>T	ENSP00000377199.2:n.1083+66C>T
ENST00000474294.6:n.1217C>T
ENST00000544807.6:c.993+66C>T	ENSP00000437513.2:n.993+66C>T
ENST00000555000.5:c.528+66C>T	ENSP00000450472.1:n.528+66C>T
ENST00000557316.5:c.*559+66C>T	ENSP00000452314.1:n.*559+66C>T
ENST00000557520.1:n.247+66C>T
ENST00000622264.4:c.1217C>T
NM_000153.3:c.1161+66C>T	NP_000144.2:n.1161+66C>T
NM_001201401.1:c.1092+66C>T	NP_001188330.1:n.1092+66C>T
NM_001201402.1:c.1083+66C>T	NP_001188331.1:n.1083+66C>T
XM_011536618.1:c.993+66C>T	XP_011534920.1:n.993+66C>T
XM_011536618.2:c.993+66C>T	XP_011534920.1:n.993+66C>T
NM_000153.4:c.1161+66C>T MANE Select	NP_000144.2:n.1161+66C>T
NM_001201401.2:c.1092+66C>T	NP_001188330.1:n.1092+66C>T
NM_001201402.2:c.1083+66C>T	NP_001188331.1:n.1083+66C>T