Canonical Allele Identifier: CA607168688

Gene: GLT8D2

Linked Data

• dbSNP Id: rs1441119257
• gnomAD v2: 12-104421843-C-T
• gnomAD v3: 12-104028065-C-T
• gnomAD v4: 12-104028065-C-T
• MyVariant Identifiers: chr12:g.104421843C>T (hg19) ; chr12:g.104028065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.104028065C>T , CM000674.2:g.104028065C>T	GRCh38
NC_000012.11:g.104421843C>T , CM000674.1:g.104421843C>T	GRCh37
NC_000012.10:g.102945973C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000360814.9:c.-163-6574G>A MANE Select	ENSP00000354053.4:n.-163-6574G>A
ENST00000360814.8:c.-163-6574G>A	ENSP00000354053.4:n.-163-6574G>A
ENST00000546436.5:c.-29+1631G>A	ENSP00000449750.1:n.-29+1631G>A
ENST00000546851.1:c.-72+21358G>A	ENSP00000446810.1:n.-72+21358G>A
ENST00000547583.1:c.-163-6574G>A	ENSP00000448065.1:n.-163-6574G>A
ENST00000548660.5:c.-28-8389G>A	ENSP00000447450.1:n.-28-8389G>A
ENST00000550816.1:n.128-8389G>A
NM_001316967.1:c.-28-8389G>A	NP_001303896.1:n.-28-8389G>A
NM_031302.3:c.-163-6574G>A	NP_112592.1:n.-163-6574G>A
NM_031302.4:c.-163-6574G>A	NP_112592.1:n.-163-6574G>A
XM_011538793.1:c.-163-6574G>A	XP_011537095.1:n.-163-6574G>A
XM_011538794.1:c.-164+1631G>A	XP_011537096.1:n.-164+1631G>A
XM_011538793.3:c.-163-6574G>A	XP_011537095.1:n.-163-6574G>A
XM_017019999.1:c.-163-6574G>A	XP_016875488.1:n.-163-6574G>A
NM_001316967.2:c.-28-8389G>A	NP_001303896.1:n.-28-8389G>A
NM_001384711.1:c.-163-6574G>A MANE Select	NP_001371640.1:n.-163-6574G>A
NM_001384712.1:c.-28-8389G>A	NP_001371641.1:n.-28-8389G>A
NM_001384713.1:c.-163-6574G>A	NP_001371642.1:n.-163-6574G>A
NM_001384715.1:c.-163-6574G>A	NP_001371644.1:n.-163-6574G>A
NM_001384716.1:c.-28-8389G>A	NP_001371645.1:n.-28-8389G>A
NM_001384717.1:c.-163-6574G>A	NP_001371646.1:n.-163-6574G>A
NM_001384718.1:c.-163-6574G>A	NP_001371647.1:n.-163-6574G>A
NM_001384719.1:c.-163-6574G>A	NP_001371648.1:n.-163-6574G>A
NM_001384720.1:c.-163-6574G>A	NP_001371649.1:n.-163-6574G>A
NM_001384721.1:c.-163-6574G>A	NP_001371650.1:n.-163-6574G>A
NM_001384722.1:c.-163-6574G>A	NP_001371651.1:n.-163-6574G>A
NM_031302.5:c.-163-6574G>A	NP_112592.1:n.-163-6574G>A