Canonical Allele Identifier: CA2697554079

Gene: GALC

Linked Data

• ClinVar Variation Id: 2750454
• ClinVar RCV Id: RCV003502467

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939998T>G , CM000676.2:g.87939998T>G	GRCh38
NC_000014.8:g.88406342T>G , CM000676.1:g.88406342T>G	GRCh37
NC_000014.7:g.87476095T>G	NCBI36
NG_011853.2:g.58566A>C
NG_011853.3:g.58566A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1835-17A>C MANE Select	ENSP00000261304.2:n.1835-17A>C
ENST00000261304.6:c.1835-17A>C	ENSP00000261304.2:n.1835-17A>C
ENST00000393568.8:c.1766-17A>C	ENSP00000377198.4:n.1766-17A>C
ENST00000393569.6:c.1757-17A>C	ENSP00000377199.2:n.1757-17A>C
ENST00000544807.6:c.1667-17A>C	ENSP00000437513.2:n.1667-17A>C
ENST00000555000.5:c.1202-17A>C	ENSP00000450472.1:n.1202-17A>C
ENST00000555179.1:c.371-17A>C
NM_000153.3:c.1835-17A>C	NP_000144.2:n.1835-17A>C
NM_001201401.1:c.1766-17A>C	NP_001188330.1:n.1766-17A>C
NM_001201402.1:c.1757-17A>C	NP_001188331.1:n.1757-17A>C
XM_011536618.1:c.1667-17A>C	XP_011534920.1:n.1667-17A>C
XM_011536618.2:c.1667-17A>C	XP_011534920.1:n.1667-17A>C
NM_000153.4:c.1835-17A>C MANE Select	NP_000144.2:n.1835-17A>C
NM_001201401.2:c.1766-17A>C	NP_001188330.1:n.1766-17A>C
NM_001201402.2:c.1757-17A>C	NP_001188331.1:n.1757-17A>C