Canonical Allele Identifier: CA390746245

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88412035G>A (hg19) ; chr14:g.87945691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945691G>A , CM000676.2:g.87945691G>A	GRCh38
NC_000014.8:g.88412035G>A , CM000676.1:g.88412035G>A	GRCh37
NC_000014.7:g.87481788G>A	NCBI36
NG_011853.2:g.52873C>T
NG_011853.3:g.52873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1532C>T MANE Select	ENSP00000261304.2:p.Thr511Ile
ENST00000261304.6:c.1532C>T	ENSP00000261304.2:p.Thr511Ile
ENST00000393568.8:c.1463C>T	ENSP00000377198.4:p.Thr488Ile
ENST00000393569.6:c.1454C>T	ENSP00000377199.2:p.Thr485Ile
ENST00000544807.6:c.1364C>T	ENSP00000437513.2:p.Thr455Ile
ENST00000555000.5:c.899C>T	ENSP00000450472.1:p.Thr300Ile
ENST00000555179.1:c.206+2037C>T
ENST00000557316.5:c.*930C>T	ENSP00000452314.1:n.*930C>T
NM_000153.3:c.1532C>T	NP_000144.2:p.Thr511Ile
NM_001201401.1:c.1463C>T	NP_001188330.1:p.Thr488Ile
NM_001201402.1:c.1454C>T	NP_001188331.1:p.Thr485Ile
XM_011536618.1:c.1364C>T	XP_011534920.1:p.Thr455Ile
XM_011536618.2:c.1364C>T	XP_011534920.1:p.Thr455Ile
NM_000153.4:c.1532C>T MANE Select	NP_000144.2:p.Thr511Ile
NM_001201401.2:c.1463C>T	NP_001188330.1:p.Thr488Ile
NM_001201402.2:c.1454C>T	NP_001188331.1:p.Thr485Ile