Canonical Allele Identifier: CA487366427

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450741A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984397A>T , CM000676.2:g.87984397A>T	GRCh38
NC_000014.8:g.88450741A>T , CM000676.1:g.88450741A>T	GRCh37
NC_000014.7:g.87520494A>T	NCBI36
NG_011853.2:g.14167T>A
NG_011853.3:g.14167T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.579T>A MANE Select	ENSP00000261304.2:p.Ile193=
ENST00000261304.6:c.579T>A	ENSP00000261304.2:p.Ile193=
ENST00000393568.8:c.510T>A	ENSP00000377198.4:p.Ile170=
ENST00000393569.6:c.501T>A	ENSP00000377199.2:p.Ile167=
ENST00000474294.6:n.569T>A
ENST00000544807.6:c.411T>A	ENSP00000437513.2:p.Ile137=
ENST00000554372.5:c.*328T>A	ENSP00000451884.1:n.*328T>A
ENST00000554916.5:n.458T>A
ENST00000556261.5:n.280T>A
ENST00000557316.5:c.579T>A	ENSP00000452314.1:p.Ile193=
ENST00000622264.4:c.569T>A
NM_000153.3:c.579T>A	NP_000144.2:p.Ile193=
NM_001201401.1:c.510T>A	NP_001188330.1:p.Ile170=
NM_001201402.1:c.501T>A	NP_001188331.1:p.Ile167=
XM_011536618.1:c.411T>A	XP_011534920.1:p.Ile137=
XM_011536618.2:c.411T>A	XP_011534920.1:p.Ile137=
NM_000153.4:c.579T>A MANE Select	NP_000144.2:p.Ile193=
NM_001201401.2:c.510T>A	NP_001188330.1:p.Ile170=
NM_001201402.2:c.501T>A	NP_001188331.1:p.Ile167=