Canonical Allele Identifier: CA390750833

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88448575T>A (hg19) ; chr14:g.87982231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982231T>A , CM000676.2:g.87982231T>A	GRCh38
NC_000014.8:g.88448575T>A , CM000676.1:g.88448575T>A	GRCh37
NC_000014.7:g.87518328T>A	NCBI36
NG_011853.2:g.16333A>T
NG_011853.3:g.16333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.595A>T MANE Select	ENSP00000261304.2:p.Arg199Trp
ENST00000261304.6:c.595A>T	ENSP00000261304.2:p.Arg199Trp
ENST00000393568.8:c.526A>T	ENSP00000377198.4:p.Arg176Trp
ENST00000393569.6:c.517A>T	ENSP00000377199.2:p.Arg173Trp
ENST00000474294.6:n.585A>T
ENST00000544807.6:c.427A>T	ENSP00000437513.2:p.Arg143Trp
ENST00000554372.5:c.*344A>T	ENSP00000451884.1:n.*344A>T
ENST00000554916.5:n.474A>T
ENST00000556261.5:n.296A>T
ENST00000557316.5:c.595A>T	ENSP00000452314.1:p.Arg199Trp
ENST00000622264.4:c.585A>T
NM_000153.3:c.595A>T	NP_000144.2:p.Arg199Trp
NM_001201401.1:c.526A>T	NP_001188330.1:p.Arg176Trp
NM_001201402.1:c.517A>T	NP_001188331.1:p.Arg173Trp
XM_011536618.1:c.427A>T	XP_011534920.1:p.Arg143Trp
XM_011536618.2:c.427A>T	XP_011534920.1:p.Arg143Trp
NM_000153.4:c.595A>T MANE Select	NP_000144.2:p.Arg199Trp
NM_001201401.2:c.526A>T	NP_001188330.1:p.Arg176Trp
NM_001201402.2:c.517A>T	NP_001188331.1:p.Arg173Trp