Canonical Allele Identifier: CA2563231964

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965498A>G , CM000676.2:g.87965498A>G	GRCh38
NC_000014.8:g.88431842A>G , CM000676.1:g.88431842A>G	GRCh37
NC_000014.7:g.87501595A>G	NCBI36
NG_011853.2:g.33066T>C
NG_011853.3:g.33066T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1033+7T>C MANE Select	ENSP00000261304.2:n.1033+7T>C
ENST00000261304.6:c.1033+7T>C	ENSP00000261304.2:n.1033+7T>C
ENST00000393568.8:c.964+7T>C	ENSP00000377198.4:n.964+7T>C
ENST00000393569.6:c.955+7T>C	ENSP00000377199.2:n.955+7T>C
ENST00000474294.6:n.1023+7T>C
ENST00000544807.6:c.865+7T>C	ENSP00000437513.2:n.865+7T>C
ENST00000555000.5:c.400+7T>C	ENSP00000450472.1:n.400+7T>C
ENST00000557316.5:c.*431+7T>C	ENSP00000452314.1:n.*431+7T>C
ENST00000557520.1:n.119+7T>C
ENST00000622264.4:c.1023+7T>C
NM_000153.3:c.1033+7T>C	NP_000144.2:n.1033+7T>C
NM_001201401.1:c.964+7T>C	NP_001188330.1:n.964+7T>C
NM_001201402.1:c.955+7T>C	NP_001188331.1:n.955+7T>C
XM_011536618.1:c.865+7T>C	XP_011534920.1:n.865+7T>C
XM_011536618.2:c.865+7T>C	XP_011534920.1:n.865+7T>C
NM_000153.4:c.1033+7T>C MANE Select	NP_000144.2:n.1033+7T>C
NM_001201401.2:c.964+7T>C	NP_001188330.1:n.964+7T>C
NM_001201402.2:c.955+7T>C	NP_001188331.1:n.955+7T>C