Canonical Allele Identifier: CA6550225

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 437118
• ClinVar RCV Id: RCV000500642 ; RCV003727751
• dbSNP Id: rs140795162
• ExAC: 12:49579330 G / A
• gnomAD v2: 12-49579330-G-A
• gnomAD v3: 12-49185547-G-A
• gnomAD v4: 12-49185547-G-A
• MyVariant Identifiers: chr12:g.49579330G>A (hg19) ; chr12:g.49185547G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185547G>A , CM000674.2:g.49185547G>A	GRCh38
NC_000012.11:g.49579330G>A , CM000674.1:g.49579330G>A	GRCh37
NC_000012.10:g.47865597G>A	NCBI36
NG_008966.1:g.8532C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.819C>T MANE Select	ENSP00000301071.7:p.Ala273=
ENST00000547939.6:c.714C>T	ENSP00000450268.2:p.Ala238=
ENST00000550767.6:c.714C>T	ENSP00000446637.1:p.Ala238=
ENST00000550811.2:n.1852C>T
ENST00000552924.2:c.714C>T	ENSP00000448725.2:p.Ala238=
ENST00000679733.1:c.*275C>T	ENSP00000505459.1:n.*275C>T
ENST00000295766.9:c.819C>T	ENSP00000439020.2:p.Ala273=
ENST00000301071.11:c.819C>T	ENSP00000301071.7:p.Ala273=
ENST00000550767.5:c.714C>T	ENSP00000446637.1:p.Ala238=
NM_001270399.1:c.819C>T	NP_001257328.1:p.Ala273=
NM_001270400.1:c.714C>T	NP_001257329.1:p.Ala238=
NM_006009.3:c.819C>T	NP_006000.2:p.Ala273=
NM_006009.4:c.819C>T MANE Select	NP_006000.2:p.Ala273=
NM_001270399.2:c.819C>T	NP_001257328.1:p.Ala273=
NM_001270400.2:c.714C>T	NP_001257329.1:p.Ala238=