Canonical Allele Identifier: CA487366240

Gene: GALC

Linked Data

• COSMIC: COSM3664742 ; COSM4810515
• MyVariant Identifiers: chr14:g.88442737A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976393A>C , CM000676.2:g.87976393A>C	GRCh38
NC_000014.8:g.88442737A>C , CM000676.1:g.88442737A>C	GRCh37
NC_000014.7:g.87512490A>C	NCBI36
NG_011853.2:g.22171T>G
NG_011853.3:g.22171T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.717T>G MANE Select	ENSP00000261304.2:p.Leu239=
ENST00000261304.6:c.717T>G	ENSP00000261304.2:p.Leu239=
ENST00000393568.8:c.648T>G	ENSP00000377198.4:p.Leu216=
ENST00000393569.6:c.639T>G	ENSP00000377199.2:p.Leu213=
ENST00000474294.6:n.707T>G
ENST00000477716.3:n.472T>G
ENST00000544807.6:c.549T>G	ENSP00000437513.2:p.Leu183=
ENST00000554916.5:n.596T>G
ENST00000555000.5:c.84T>G	ENSP00000450472.1:p.Leu28=
ENST00000557316.5:c.*115T>G	ENSP00000452314.1:n.*115T>G
ENST00000622264.4:c.707T>G
NM_000153.3:c.717T>G	NP_000144.2:p.Leu239=
NM_001201401.1:c.648T>G	NP_001188330.1:p.Leu216=
NM_001201402.1:c.639T>G	NP_001188331.1:p.Leu213=
XM_011536618.1:c.549T>G	XP_011534920.1:p.Leu183=
XM_011536618.2:c.549T>G	XP_011534920.1:p.Leu183=
NM_000153.4:c.717T>G MANE Select	NP_000144.2:p.Leu239=
NM_001201401.2:c.648T>G	NP_001188330.1:p.Leu216=
NM_001201402.2:c.639T>G	NP_001188331.1:p.Leu213=