Canonical Allele Identifier: CA2802492499

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976299G>A , CM000676.2:g.87976299G>A	GRCh38
NC_000014.8:g.88442643G>A , CM000676.1:g.88442643G>A	GRCh37
NC_000014.7:g.87512396G>A	NCBI36
NG_011853.2:g.22265C>T
NG_011853.3:g.22265C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.752+59C>T MANE Select	ENSP00000261304.2:n.752+59C>T
ENST00000261304.6:c.752+59C>T	ENSP00000261304.2:n.752+59C>T
ENST00000393568.8:c.683+59C>T	ENSP00000377198.4:n.683+59C>T
ENST00000393569.6:c.674+59C>T	ENSP00000377199.2:n.674+59C>T
ENST00000474294.6:n.742+59C>T
ENST00000477716.3:n.507+59C>T
ENST00000544807.6:c.584+59C>T	ENSP00000437513.2:n.584+59C>T
ENST00000555000.5:c.119+59C>T	ENSP00000450472.1:n.119+59C>T
ENST00000557316.5:c.*150+59C>T	ENSP00000452314.1:n.*150+59C>T
ENST00000622264.4:c.742+59C>T
NM_000153.3:c.752+59C>T	NP_000144.2:n.752+59C>T
NM_001201401.1:c.683+59C>T	NP_001188330.1:n.683+59C>T
NM_001201402.1:c.674+59C>T	NP_001188331.1:n.674+59C>T
XM_011536618.1:c.584+59C>T	XP_011534920.1:n.584+59C>T
XM_011536618.2:c.584+59C>T	XP_011534920.1:n.584+59C>T
NM_000153.4:c.752+59C>T MANE Select	NP_000144.2:n.752+59C>T
NM_001201401.2:c.683+59C>T	NP_001188330.1:n.683+59C>T
NM_001201402.2:c.674+59C>T	NP_001188331.1:n.674+59C>T