Canonical Allele Identifier: CA6550336

Gene: TUBA1A

Linked Data

• dbSNP Id: rs747314050
• ExAC: 12:49580645 A / ATTT
• gnomAD v2: 12-49580645-A-ATTT
• gnomAD v3: 12-49186862-A-ATTT
• gnomAD v4: 12-49186862-A-ATTT
• MyVariant Identifiers: chr12:g.49580645_49580646insTTT (hg19) ; chr12:g.49186862_49186863insTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186862_49186863insTTT , CM000674.2:g.49186862_49186863insTTT	GRCh38
NC_000012.11:g.49580645_49580646insTTT , CM000674.1:g.49580645_49580646insTTT	GRCh37
NC_000012.10:g.47866912_47866913insTTT	NCBI36
NG_008966.1:g.7216_7217insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.4-30_4-29insAAA MANE Select	ENSP00000301071.7:n.4-30_4-29insAAA
ENST00000547939.6:c.-102-30_-102-29insAAA	ENSP00000450268.2:n.-102-30_-102-29insAAA
ENST00000550767.6:c.-102-30_-102-29insAAA	ENSP00000446637.1:n.-102-30_-102-29insAAA
ENST00000550811.2:n.1007_1008insAAA
ENST00000552924.2:c.-102-30_-102-29insAAA	ENSP00000448725.2:n.-102-30_-102-29insAAA
ENST00000679733.1:c.4-30_4-29insAAA	ENSP00000505459.1:n.4-30_4-29insAAA
ENST00000295766.9:c.4-30_4-29insAAA	ENSP00000439020.2:n.4-30_4-29insAAA
ENST00000301071.11:c.4-30_4-29insAAA	ENSP00000301071.7:n.4-30_4-29insAAA
ENST00000546918.1:c.4-30_4-29insAAA	ENSP00000446613.1:n.4-30_4-29insAAA
ENST00000547939.5:c.-102-30_-102-29insAAA	ENSP00000450268.1:n.-102-30_-102-29insAAA
ENST00000548363.1:n.8-30_8-29insAAA
ENST00000550254.1:n.26-30_26-29insAAA
ENST00000550767.5:c.-132_-131insAAA	ENSP00000446637.1:n.-132_-131insAAA
ENST00000550811.1:c.-102-30_-102-29insAAA	ENSP00000449016.1:n.-102-30_-102-29insAAA
ENST00000552924.1:c.-102-30_-102-29insAAA	ENSP00000448725.1:n.-102-30_-102-29insAAA
NM_001270399.1:c.4-30_4-29insAAA	NP_001257328.1:n.4-30_4-29insAAA
NM_001270400.1:c.-102-30_-102-29insAAA	NP_001257329.1:n.-102-30_-102-29insAAA
NM_006009.3:c.4-30_4-29insAAA	NP_006000.2:n.4-30_4-29insAAA
NM_006009.4:c.4-30_4-29insAAA MANE Select	NP_006000.2:n.4-30_4-29insAAA
NM_001270399.2:c.4-30_4-29insAAA	NP_001257328.1:n.4-30_4-29insAAA
NM_001270400.2:c.-102-30_-102-29insAAA	NP_001257329.1:n.-102-30_-102-29insAAA