Canonical Allele Identifier: CA15261946
Gene: GLT8D1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52699090C>T , CM000665.2:g.52699090C>T GRCh38
NC_000003.11:g.52733106C>T , CM000665.1:g.52733106C>T GRCh37
NC_000003.10:g.52708146C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266014.11:c.116-1156G>A MANE Select ENSP00000266014.5:n.116-1156G>A
ENST00000266014.9:c.116-1156G>A ENSP00000266014.5:n.116-1156G>A
ENST00000394783.7:c.116-1156G>A ENSP00000378263.3:n.116-1156G>A
ENST00000407584.7:c.-392-1156G>A ENSP00000385730.4:n.-392-1156G>A
ENST00000478968.6:c.116-1156G>A ENSP00000419612.2:n.116-1156G>A
ENST00000479553.5:c.116-1156G>A ENSP00000417713.1:n.116-1156G>A
ENST00000484163.5:n.388-1156G>A
ENST00000485899.1:n.153-1156G>A
ENST00000487642.5:c.116-1156G>A ENSP00000420462.1:n.116-1156G>A
ENST00000489119.5:c.116-1156G>A ENSP00000417551.2:n.116-1156G>A
ENST00000491606.5:c.116-1156G>A ENSP00000418853.1:n.116-1156G>A
ENST00000497436.5:c.116-1156G>A ENSP00000420286.1:n.116-1156G>A
ENST00000497953.5:c.116-1156G>A ENSP00000419094.1:n.116-1156G>A
NM_001010983.2:c.116-1156G>A NP_001010983.1:n.116-1156G>A
NM_001278280.1:c.116-1156G>A NP_001265209.1:n.116-1156G>A
NM_001278281.1:c.116-1156G>A NP_001265210.1:n.116-1156G>A
NM_018446.3:c.116-1156G>A NP_060916.1:n.116-1156G>A
NM_152932.2:c.116-1156G>A NP_690909.1:n.116-1156G>A
XM_024453641.1:c.116-1156G>A XP_024309409.1:n.116-1156G>A
XR_002959551.1:n.700-1156G>A
NM_001010983.3:c.116-1156G>A NP_001010983.1:n.116-1156G>A
NM_001278280.2:c.116-1156G>A NP_001265209.1:n.116-1156G>A
NM_001278281.2:c.116-1156G>A NP_001265210.1:n.116-1156G>A
NM_018446.4:c.116-1156G>A MANE Select NP_060916.1:n.116-1156G>A
NM_152932.3:c.116-1156G>A NP_690909.1:n.116-1156G>A
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