Canonical Allele Identifier: CA242561008

Gene: GLT8D2

Linked Data

• dbSNP Id: rs1051295746
• MyVariant Identifiers: chr12:g.104421708T>C (hg19) ; chr12:g.104027930T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.104027930T>C , CM000674.2:g.104027930T>C	GRCh38
NC_000012.11:g.104421708T>C , CM000674.1:g.104421708T>C	GRCh37
NC_000012.10:g.102945838T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360814.9:c.-163-6439A>G MANE Select	ENSP00000354053.4:n.-163-6439A>G
ENST00000360814.8:c.-163-6439A>G	ENSP00000354053.4:n.-163-6439A>G
ENST00000546436.5:c.-29+1766A>G	ENSP00000449750.1:n.-29+1766A>G
ENST00000546851.1:c.-72+21493A>G	ENSP00000446810.1:n.-72+21493A>G
ENST00000547583.1:c.-163-6439A>G	ENSP00000448065.1:n.-163-6439A>G
ENST00000548660.5:c.-28-8254A>G	ENSP00000447450.1:n.-28-8254A>G
ENST00000550816.1:n.128-8254A>G
NM_001316967.1:c.-28-8254A>G	NP_001303896.1:n.-28-8254A>G
NM_031302.3:c.-163-6439A>G	NP_112592.1:n.-163-6439A>G
NM_031302.4:c.-163-6439A>G	NP_112592.1:n.-163-6439A>G
XM_011538793.1:c.-163-6439A>G	XP_011537095.1:n.-163-6439A>G
XM_011538794.1:c.-164+1766A>G	XP_011537096.1:n.-164+1766A>G
XM_011538793.3:c.-163-6439A>G	XP_011537095.1:n.-163-6439A>G
XM_017019999.1:c.-163-6439A>G	XP_016875488.1:n.-163-6439A>G
NM_001316967.2:c.-28-8254A>G	NP_001303896.1:n.-28-8254A>G
NM_001384711.1:c.-163-6439A>G MANE Select	NP_001371640.1:n.-163-6439A>G
NM_001384712.1:c.-28-8254A>G	NP_001371641.1:n.-28-8254A>G
NM_001384713.1:c.-163-6439A>G	NP_001371642.1:n.-163-6439A>G
NM_001384715.1:c.-163-6439A>G	NP_001371644.1:n.-163-6439A>G
NM_001384716.1:c.-28-8254A>G	NP_001371645.1:n.-28-8254A>G
NM_001384717.1:c.-163-6439A>G	NP_001371646.1:n.-163-6439A>G
NM_001384718.1:c.-163-6439A>G	NP_001371647.1:n.-163-6439A>G
NM_001384719.1:c.-163-6439A>G	NP_001371648.1:n.-163-6439A>G
NM_001384720.1:c.-163-6439A>G	NP_001371649.1:n.-163-6439A>G
NM_001384721.1:c.-163-6439A>G	NP_001371650.1:n.-163-6439A>G
NM_001384722.1:c.-163-6439A>G	NP_001371651.1:n.-163-6439A>G
NM_031302.5:c.-163-6439A>G	NP_112592.1:n.-163-6439A>G