Canonical Allele Identifier: CA390747662

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965627G>A , CM000676.2:g.87965627G>A	GRCh38
NC_000014.8:g.88431971G>A , CM000676.1:g.88431971G>A	GRCh37
NC_000014.7:g.87501724G>A	NCBI36
NG_011853.2:g.32937C>T
NG_011853.3:g.32937C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.911C>T MANE Select	NP_000144.2:p.Thr304Ile
ENST00000261304.7:c.911C>T MANE Select	ENSP00000261304.2:p.Thr304Ile
NM_000153.3:c.911C>T	NP_000144.2:p.Thr304Ile
NM_001201401.1:c.842C>T	NP_001188330.1:p.Thr281Ile
NM_001201401.2:c.842C>T	NP_001188330.1:p.Thr281Ile
NM_001201402.1:c.833C>T	NP_001188331.1:p.Thr278Ile
NM_001201402.2:c.833C>T	NP_001188331.1:p.Thr278Ile
ENST00000261304.6:c.911C>T	ENSP00000261304.2:p.Thr304Ile
ENST00000393568.8:c.842C>T	ENSP00000377198.4:p.Thr281Ile
ENST00000393569.6:c.833C>T	ENSP00000377199.2:p.Thr278Ile
ENST00000474294.6:n.901C>T
ENST00000544807.6:c.743C>T	ENSP00000437513.2:p.Thr248Ile
ENST00000555000.5:c.278C>T	ENSP00000450472.1:p.Thr93Ile
ENST00000557316.5:c.*309C>T	ENSP00000452314.1:n.*309C>T
ENST00000622264.4:c.901C>T
XM_011536618.1:c.743C>T	XP_011534920.1:p.Thr248Ile
XM_011536618.2:c.743C>T	XP_011534920.1:p.Thr248Ile