Canonical Allele Identifier: CA487366720

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88454853A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988509A>T , CM000676.2:g.87988509A>T	GRCh38
NC_000014.8:g.88454853A>T , CM000676.1:g.88454853A>T	GRCh37
NC_000014.7:g.87524606A>T	NCBI36
NG_011853.2:g.10055T>A
NG_011853.3:g.10055T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.210T>A MANE Select	ENSP00000261304.2:p.Leu70=
ENST00000261304.6:c.210T>A	ENSP00000261304.2:p.Leu70=
ENST00000393568.8:c.196-302T>A	ENSP00000377198.4:n.196-302T>A
ENST00000393569.6:c.132T>A	ENSP00000377199.2:p.Leu44=
ENST00000474294.6:n.200T>A
ENST00000544807.6:c.42T>A	ENSP00000437513.2:p.Leu14=
ENST00000554372.5:c.210T>A	ENSP00000451884.1:p.Leu70=
ENST00000554916.5:n.89T>A
ENST00000555956.1:n.15T>A
ENST00000556879.5:c.270T>A	ENSP00000452208.1:n.270T>A
ENST00000557316.5:c.210T>A	ENSP00000452314.1:p.Leu70=
ENST00000622264.4:c.200T>A
NM_000153.3:c.210T>A	NP_000144.2:p.Leu70=
NM_001201401.1:c.196-302T>A	NP_001188330.1:n.196-302T>A
NM_001201402.1:c.132T>A	NP_001188331.1:p.Leu44=
XM_011536618.1:c.42T>A	XP_011534920.1:p.Leu14=
XM_011536618.2:c.42T>A	XP_011534920.1:p.Leu14=
NM_000153.4:c.210T>A MANE Select	NP_000144.2:p.Leu70=
NM_001201401.2:c.196-302T>A	NP_001188330.1:n.196-302T>A
NM_001201402.2:c.132T>A	NP_001188331.1:p.Leu44=