Canonical Allele Identifier: CA487355506

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411947T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945603T>A , CM000676.2:g.87945603T>A	GRCh38
NC_000014.8:g.88411947T>A , CM000676.1:g.88411947T>A	GRCh37
NC_000014.7:g.87481700T>A	NCBI36
NG_011853.3:g.52961A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1620A>T MANE Select	ENSP00000261304.2:p.Thr540=
ENST00000261304.6:c.1620A>T	ENSP00000261304.2:p.Thr540=
ENST00000393568.8:c.1551A>T	ENSP00000377198.4:p.Thr517=
ENST00000393569.6:c.1542A>T	ENSP00000377199.2:p.Thr514=
ENST00000544807.6:c.1452A>T	ENSP00000437513.2:p.Thr484=
ENST00000555000.5:c.987A>T	ENSP00000450472.1:p.Thr329=
ENST00000555179.1:c.206+2125A>T
ENST00000557316.5:c.*1018A>T	ENSP00000452314.1:n.*1018A>T
XM_011536618.1:c.1452A>T	XP_011534920.1:p.Thr484=
XM_011536618.2:c.1452A>T	XP_011534920.1:p.Thr484=
NM_000153.4:c.1620A>T MANE Select	NP_000144.2:p.Thr540=
NM_001201401.2:c.1551A>T	NP_001188330.1:p.Thr517=
NM_001201402.2:c.1542A>T	NP_001188331.1:p.Thr514=