Canonical Allele Identifier: CA2838530616

Gene: GLT1D1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128966192A>T , CM000674.2:g.128966192A>T	GRCh38
NC_000012.11:g.129450737A>T , CM000674.1:g.129450737A>T	GRCh37
NC_000012.10:g.128016690A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442111.7:c.879+8549A>T MANE Select	ENSP00000394692.2:n.879+8549A>T
ENST00000281703.11:c.639+8549A>T	ENSP00000281703.6:n.639+8549A>T
ENST00000281703.10:c.639+8549A>T	ENSP00000281703.6:n.639+8549A>T
ENST00000413816.6:c.861+8549A>T	ENSP00000399374.2:n.861+8549A>T
ENST00000441390.6:c.*368+8549A>T	ENSP00000411992.2:n.*368+8549A>T
ENST00000442111.6:c.879+8549A>T	ENSP00000394692.2:n.879+8549A>T
ENST00000537468.1:c.894+8549A>T	ENSP00000438158.1:n.894+8549A>T
NM_144669.1:c.639+8549A>T	NP_653270.1:n.639+8549A>T
NM_144669.2:c.639+8549A>T	NP_653270.1:n.639+8549A>T
NR_133646.1:n.975+8549A>T
XM_005253553.3:c.879+8549A>T	XP_005253610.1:n.879+8549A>T
XM_011537956.1:c.927+8549A>T	XP_011536258.1:n.927+8549A>T
XM_011537957.1:c.801+8549A>T	XP_011536259.1:n.801+8549A>T
XM_011537958.1:c.471+8549A>T	XP_011536260.1:n.471+8549A>T
NM_001366886.1:c.879+8549A>T MANE Select	NP_001353815.1:n.879+8549A>T
NM_001366887.1:c.753+8549A>T	NP_001353816.1:n.753+8549A>T
NM_001366888.1:c.471+8549A>T	NP_001353817.1:n.471+8549A>T
NM_001366889.1:c.927+8549A>T	NP_001353818.1:n.927+8549A>T
NR_159493.1:n.889+8549A>T
XM_011537957.2:c.801+8549A>T	XP_011536259.1:n.801+8549A>T
XM_017018855.2:c.1168-8044A>T	XP_016874344.1:n.1168-8044A>T
XR_001748586.1:n.1186+8549A>T
XR_001748587.1:n.1138+8549A>T
XR_001748588.1:n.1277+8549A>T
XR_001748589.1:n.1101+8549A>T
XR_001748590.1:n.1005+8549A>T
XR_001748591.1:n.990+8549A>T
NM_144669.3:c.639+8549A>T	NP_653270.1:n.639+8549A>T
NR_133646.2:n.931+8549A>T