Canonical Allele Identifier: CA479717146

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1263855529
• gnomAD v4: 12-49185556-G-T
• MyVariant Identifiers: chr12:g.49579339G>T (hg19) ; chr12:g.49185556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185556G>T , CM000674.2:g.49185556G>T	GRCh38
NC_000012.11:g.49579339G>T , CM000674.1:g.49579339G>T	GRCh37
NC_000012.10:g.47865606G>T	NCBI36
NG_008966.1:g.8523C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.810C>A MANE Select	ENSP00000301071.7:p.Ala270=
ENST00000547939.6:c.705C>A	ENSP00000450268.2:p.Ala235=
ENST00000550767.6:c.705C>A	ENSP00000446637.1:p.Ala235=
ENST00000550811.2:n.1843C>A
ENST00000552924.2:c.705C>A	ENSP00000448725.2:p.Ala235=
ENST00000679733.1:c.*266C>A	ENSP00000505459.1:n.*266C>A
ENST00000295766.9:c.810C>A	ENSP00000439020.2:p.Ala270=
ENST00000301071.11:c.810C>A	ENSP00000301071.7:p.Ala270=
ENST00000550767.5:c.705C>A	ENSP00000446637.1:p.Ala235=
NM_001270399.1:c.810C>A	NP_001257328.1:p.Ala270=
NM_001270400.1:c.705C>A	NP_001257329.1:p.Ala235=
NM_006009.3:c.810C>A	NP_006000.2:p.Ala270=
NM_006009.4:c.810C>A MANE Select	NP_006000.2:p.Ala270=
NM_001270399.2:c.810C>A	NP_001257328.1:p.Ala270=
NM_001270400.2:c.705C>A	NP_001257329.1:p.Ala235=