Canonical Allele Identifier: CA390749781

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442822T>C (hg19) ; chr14:g.87976478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976478T>C , CM000676.2:g.87976478T>C	GRCh38
NC_000014.8:g.88442822T>C , CM000676.1:g.88442822T>C	GRCh37
NC_000014.7:g.87512575T>C	NCBI36
NG_011853.2:g.22086A>G
NG_011853.3:g.22086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.632A>G MANE Select	ENSP00000261304.2:p.Lys211Arg
ENST00000261304.6:c.632A>G	ENSP00000261304.2:p.Lys211Arg
ENST00000393568.8:c.563A>G	ENSP00000377198.4:p.Lys188Arg
ENST00000393569.6:c.554A>G	ENSP00000377199.2:p.Lys185Arg
ENST00000474294.6:n.622A>G
ENST00000477716.3:n.387A>G
ENST00000544807.6:c.464A>G	ENSP00000437513.2:p.Lys155Arg
ENST00000554916.5:n.511A>G
ENST00000555000.5:c.-2A>G	ENSP00000450472.1:n.-2A>G
ENST00000557316.5:c.*30A>G	ENSP00000452314.1:n.*30A>G
ENST00000622264.4:c.622A>G
NM_000153.3:c.632A>G	NP_000144.2:p.Lys211Arg
NM_001201401.1:c.563A>G	NP_001188330.1:p.Lys188Arg
NM_001201402.1:c.554A>G	NP_001188331.1:p.Lys185Arg
XM_011536618.1:c.464A>G	XP_011534920.1:p.Lys155Arg
XM_011536618.2:c.464A>G	XP_011534920.1:p.Lys155Arg
NM_000153.4:c.632A>G MANE Select	NP_000144.2:p.Lys211Arg
NM_001201401.2:c.563A>G	NP_001188330.1:p.Lys188Arg
NM_001201402.2:c.554A>G	NP_001188331.1:p.Lys185Arg