Canonical Allele Identifier: CA205452

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 212489
• ClinVar RCV Id: RCV000192557 ; RCV003390932
• dbSNP Id: rs3206694
• ExAC: 12:49578901 A / G
• gnomAD v2: 12-49578901-A-G
• gnomAD v3: 12-49185118-A-G
• gnomAD v4: 12-49185118-A-G
• MyVariant Identifiers: chr12:g.49578901A>G (hg19) ; chr12:g.49185118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185118A>G , CM000674.2:g.49185118A>G	GRCh38
NC_000012.11:g.49578901A>G , CM000674.1:g.49578901A>G	GRCh37
NC_000012.10:g.47865168A>G	NCBI36
NG_008966.1:g.8961T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.1248T>C MANE Select	ENSP00000301071.7:p.Gly416=
ENST00000547939.6:c.1143T>C	ENSP00000450268.2:p.Gly381=
ENST00000550767.6:c.1143T>C	ENSP00000446637.1:p.Gly381=
ENST00000550811.2:n.2281T>C
ENST00000552924.2:c.1143T>C	ENSP00000448725.2:p.Gly381=
ENST00000679733.1:c.*704T>C	ENSP00000505459.1:n.*704T>C
ENST00000295766.9:c.1248T>C	ENSP00000439020.2:p.Gly416=
ENST00000301071.11:c.1248T>C	ENSP00000301071.7:p.Gly416=
ENST00000550767.5:c.1143T>C	ENSP00000446637.1:p.Gly381=
NM_001270399.1:c.1248T>C	NP_001257328.1:p.Gly416=
NM_001270400.1:c.1143T>C	NP_001257329.1:p.Gly381=
NM_006009.3:c.1248T>C	NP_006000.2:p.Gly416=
NM_006009.4:c.1248T>C MANE Select	NP_006000.2:p.Gly416=
NM_001270399.2:c.1248T>C	NP_001257328.1:p.Gly416=
NM_001270400.2:c.1143T>C	NP_001257329.1:p.Gly381=