Canonical Allele Identifier: CA479717221

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1322530615
• gnomAD v4: 12-49185607-T-C
• MyVariant Identifiers: chr12:g.49579390T>C (hg19) ; chr12:g.49185607T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185607T>C , CM000674.2:g.49185607T>C	GRCh38
NC_000012.11:g.49579390T>C , CM000674.1:g.49579390T>C	GRCh37
NC_000012.10:g.47865657T>C	NCBI36
NG_008966.1:g.8472A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.759A>G MANE Select	ENSP00000301071.7:p.Thr253=
ENST00000547939.6:c.654A>G	ENSP00000450268.2:p.Thr218=
ENST00000550767.6:c.654A>G	ENSP00000446637.1:p.Thr218=
ENST00000550811.2:n.1792A>G
ENST00000552924.2:c.654A>G	ENSP00000448725.2:p.Thr218=
ENST00000679733.1:c.*215A>G	ENSP00000505459.1:n.*215A>G
ENST00000295766.9:c.759A>G	ENSP00000439020.2:p.Thr253=
ENST00000301071.11:c.759A>G	ENSP00000301071.7:p.Thr253=
ENST00000547939.5:c.654A>G	ENSP00000450268.1:p.Thr218=
ENST00000550767.5:c.654A>G	ENSP00000446637.1:p.Thr218=
NM_001270399.1:c.759A>G	NP_001257328.1:p.Thr253=
NM_001270400.1:c.654A>G	NP_001257329.1:p.Thr218=
NM_006009.3:c.759A>G	NP_006000.2:p.Thr253=
NM_006009.4:c.759A>G MANE Select	NP_006000.2:p.Thr253=
NM_001270399.2:c.759A>G	NP_001257328.1:p.Thr253=
NM_001270400.2:c.654A>G	NP_001257329.1:p.Thr218=