Canonical Allele Identifier: CA2445595

Gene: GLT8D1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52694788C>T , CM000665.2:g.52694788C>T	GRCh38
NC_000003.11:g.52728804C>T , CM000665.1:g.52728804C>T	GRCh37
NC_000003.10:g.52703844C>T	NCBI36
NG_027871.1:g.13869C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018446.4:c.*57G>A MANE Select	NP_060916.1:n.*57G>A
ENST00000266014.11:c.*57G>A MANE Select	ENSP00000266014.5:n.*57G>A
NM_001010983.2:c.*57G>A	NP_001010983.1:n.*57G>A
NM_001010983.3:c.*57G>A	NP_001010983.1:n.*57G>A
NM_001278280.1:c.*57G>A	NP_001265209.1:n.*57G>A
NM_001278280.2:c.*57G>A	NP_001265209.1:n.*57G>A
NM_001278281.1:c.*57G>A	NP_001265210.1:n.*57G>A
NM_001278281.2:c.*57G>A	NP_001265210.1:n.*57G>A
NM_018446.3:c.*57G>A	NP_060916.1:n.*57G>A
NM_152932.2:c.*57G>A	NP_690909.1:n.*57G>A
NM_152932.3:c.*57G>A	NP_690909.1:n.*57G>A
ENST00000266014.9:c.*57G>A	ENSP00000266014.5:n.*57G>A
ENST00000394783.7:c.*57G>A	ENSP00000378263.3:n.*57G>A
ENST00000407584.7:c.661G>A	ENSP00000385730.4:p.Val221Met
ENST00000478968.6:c.*57G>A	ENSP00000419612.2:n.*57G>A
ENST00000481643.5:c.680G>A	ENSP00000418300.1:n.680G>A
ENST00000491606.5:c.*57G>A	ENSP00000418853.1:n.*57G>A
XR_002959551.1:n.2408G>A