Canonical Allele Identifier: CA390749401

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442738A>T (hg19) ; chr14:g.87976394A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976394A>T , CM000676.2:g.87976394A>T	GRCh38
NC_000014.8:g.88442738A>T , CM000676.1:g.88442738A>T	GRCh37
NC_000014.7:g.87512491A>T	NCBI36
NG_011853.2:g.22170T>A
NG_011853.3:g.22170T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.716T>A MANE Select	ENSP00000261304.2:p.Leu239His
ENST00000261304.6:c.716T>A	ENSP00000261304.2:p.Leu239His
ENST00000393568.8:c.647T>A	ENSP00000377198.4:p.Leu216His
ENST00000393569.6:c.638T>A	ENSP00000377199.2:p.Leu213His
ENST00000474294.6:n.706T>A
ENST00000477716.3:n.471T>A
ENST00000544807.6:c.548T>A	ENSP00000437513.2:p.Leu183His
ENST00000554916.5:n.595T>A
ENST00000555000.5:c.83T>A	ENSP00000450472.1:p.Leu28His
ENST00000557316.5:c.*114T>A	ENSP00000452314.1:n.*114T>A
ENST00000622264.4:c.706T>A
NM_000153.3:c.716T>A	NP_000144.2:p.Leu239His
NM_001201401.1:c.647T>A	NP_001188330.1:p.Leu216His
NM_001201402.1:c.638T>A	NP_001188331.1:p.Leu213His
XM_011536618.1:c.548T>A	XP_011534920.1:p.Leu183His
XM_011536618.2:c.548T>A	XP_011534920.1:p.Leu183His
NM_000153.4:c.716T>A MANE Select	NP_000144.2:p.Leu239His
NM_001201401.2:c.647T>A	NP_001188330.1:p.Leu216His
NM_001201402.2:c.638T>A	NP_001188331.1:p.Leu213His