Canonical Allele Identifier: CA390751463

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450762A>C (hg19) ; chr14:g.87984418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984418A>C , CM000676.2:g.87984418A>C	GRCh38
NC_000014.8:g.88450762A>C , CM000676.1:g.88450762A>C	GRCh37
NC_000014.7:g.87520515A>C	NCBI36
NG_011853.2:g.14146T>G
NG_011853.3:g.14146T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.558T>G MANE Select	ENSP00000261304.2:p.His186Gln
ENST00000261304.6:c.558T>G	ENSP00000261304.2:p.His186Gln
ENST00000393568.8:c.489T>G	ENSP00000377198.4:p.His163Gln
ENST00000393569.6:c.480T>G	ENSP00000377199.2:p.His160Gln
ENST00000474294.6:n.548T>G
ENST00000544807.6:c.390T>G	ENSP00000437513.2:p.His130Gln
ENST00000554372.5:c.*307T>G	ENSP00000451884.1:n.*307T>G
ENST00000554916.5:n.437T>G
ENST00000556261.5:n.259T>G
ENST00000557316.5:c.558T>G	ENSP00000452314.1:p.His186Gln
ENST00000622264.4:c.548T>G
NM_000153.3:c.558T>G	NP_000144.2:p.His186Gln
NM_001201401.1:c.489T>G	NP_001188330.1:p.His163Gln
NM_001201402.1:c.480T>G	NP_001188331.1:p.His160Gln
XM_011536618.1:c.390T>G	XP_011534920.1:p.His130Gln
XM_011536618.2:c.390T>G	XP_011534920.1:p.His130Gln
NM_000153.4:c.558T>G MANE Select	NP_000144.2:p.His186Gln
NM_001201401.2:c.489T>G	NP_001188330.1:p.His163Gln
NM_001201402.2:c.480T>G	NP_001188331.1:p.His160Gln