Canonical Allele Identifier: CA390749337

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442724A>T (hg19) ; chr14:g.87976380A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976380A>T , CM000676.2:g.87976380A>T	GRCh38
NC_000014.8:g.88442724A>T , CM000676.1:g.88442724A>T	GRCh37
NC_000014.7:g.87512477A>T	NCBI36
NG_011853.2:g.22184T>A
NG_011853.3:g.22184T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.730T>A MANE Select	ENSP00000261304.2:p.Phe244Ile
ENST00000261304.6:c.730T>A	ENSP00000261304.2:p.Phe244Ile
ENST00000393568.8:c.661T>A	ENSP00000377198.4:p.Phe221Ile
ENST00000393569.6:c.652T>A	ENSP00000377199.2:p.Phe218Ile
ENST00000474294.6:n.720T>A
ENST00000477716.3:n.485T>A
ENST00000544807.6:c.562T>A	ENSP00000437513.2:p.Phe188Ile
ENST00000554916.5:n.609T>A
ENST00000555000.5:c.97T>A	ENSP00000450472.1:p.Phe33Ile
ENST00000557316.5:c.*128T>A	ENSP00000452314.1:n.*128T>A
ENST00000622264.4:c.720T>A
NM_000153.3:c.730T>A	NP_000144.2:p.Phe244Ile
NM_001201401.1:c.661T>A	NP_001188330.1:p.Phe221Ile
NM_001201402.1:c.652T>A	NP_001188331.1:p.Phe218Ile
XM_011536618.1:c.562T>A	XP_011534920.1:p.Phe188Ile
XM_011536618.2:c.562T>A	XP_011534920.1:p.Phe188Ile
NM_000153.4:c.730T>A MANE Select	NP_000144.2:p.Phe244Ile
NM_001201401.2:c.661T>A	NP_001188330.1:p.Phe221Ile
NM_001201402.2:c.652T>A	NP_001188331.1:p.Phe218Ile