Canonical Allele Identifier: CA6550339

Gene: TUBA1A

Linked Data

• dbSNP Id: rs376339966
• ExAC: 12:49580654 G / T
• gnomAD v2: 12-49580654-G-T
• gnomAD v3: 12-49186871-G-T
• gnomAD v4: 12-49186871-G-T
• MyVariant Identifiers: chr12:g.49580654G>T (hg19) ; chr12:g.49186871G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186871G>T , CM000674.2:g.49186871G>T	GRCh38
NC_000012.11:g.49580654G>T , CM000674.1:g.49580654G>T	GRCh37
NC_000012.10:g.47866921G>T	NCBI36
NG_008966.1:g.7208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.4-38C>A MANE Select	ENSP00000301071.7:n.4-38C>A
ENST00000547939.6:c.-102-38C>A	ENSP00000450268.2:n.-102-38C>A
ENST00000550767.6:c.-102-38C>A	ENSP00000446637.1:n.-102-38C>A
ENST00000550811.2:n.999C>A
ENST00000552924.2:c.-102-38C>A	ENSP00000448725.2:n.-102-38C>A
ENST00000679733.1:c.4-38C>A	ENSP00000505459.1:n.4-38C>A
ENST00000295766.9:c.4-38C>A	ENSP00000439020.2:n.4-38C>A
ENST00000301071.11:c.4-38C>A	ENSP00000301071.7:n.4-38C>A
ENST00000546918.1:c.4-38C>A	ENSP00000446613.1:n.4-38C>A
ENST00000547939.5:c.-102-38C>A	ENSP00000450268.1:n.-102-38C>A
ENST00000548363.1:n.8-38C>A
ENST00000550254.1:n.26-38C>A
ENST00000550811.1:c.-102-38C>A	ENSP00000449016.1:n.-102-38C>A
ENST00000552924.1:c.-102-38C>A	ENSP00000448725.1:n.-102-38C>A
NM_001270399.1:c.4-38C>A	NP_001257328.1:n.4-38C>A
NM_001270400.1:c.-102-38C>A	NP_001257329.1:n.-102-38C>A
NM_006009.3:c.4-38C>A	NP_006000.2:n.4-38C>A
NM_006009.4:c.4-38C>A MANE Select	NP_006000.2:n.4-38C>A
NM_001270399.2:c.4-38C>A	NP_001257328.1:n.4-38C>A
NM_001270400.2:c.-102-38C>A	NP_001257329.1:n.-102-38C>A