Canonical Allele Identifier: CA709656480

Gene: GALC

Linked Data

• dbSNP Id: rs1376366901
• MyVariant Identifiers: chr14:g.88399630G>C (hg19) ; chr14:g.87933286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87933286G>C , CM000676.2:g.87933286G>C	GRCh38
NC_000014.8:g.88399630G>C , CM000676.1:g.88399630G>C	GRCh37
NC_000014.7:g.87469383G>C	NCBI36
NG_011853.2:g.65278C>G
NG_011853.3:g.65278C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.*1446C>G MANE Select	ENSP00000261304.2:n.*1446C>G
ENST00000261304.6:c.*1446C>G	ENSP00000261304.2:n.*1446C>G
ENST00000555000.5:c.*74+613C>G	ENSP00000450472.1:n.*74+613C>G
NM_000153.3:c.*1446C>G	NP_000144.2:n.*1446C>G
NM_001201401.1:c.*1446C>G	NP_001188330.1:n.*1446C>G
NM_001201402.1:c.*1446C>G	NP_001188331.1:n.*1446C>G
XM_011536618.1:c.*1446C>G	XP_011534920.1:n.*1446C>G
XM_011536618.2:c.*1446C>G	XP_011534920.1:n.*1446C>G
NM_000153.4:c.*1446C>G MANE Select	NP_000144.2:n.*1446C>G
NM_001201401.2:c.*1446C>G	NP_001188330.1:n.*1446C>G
NM_001201402.2:c.*1446C>G	NP_001188331.1:n.*1446C>G