Canonical Allele Identifier: CA384640999

Gene: TUBA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185709A>C , CM000674.2:g.49185709A>C	GRCh38
NC_000012.11:g.49579492A>C , CM000674.1:g.49579492A>C	GRCh37
NC_000012.10:g.47865759A>C	NCBI36
NG_008966.1:g.8370T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006009.4:c.657T>G MANE Select	NP_006000.2:p.Ile219Met
ENST00000301071.12:c.657T>G MANE Select	ENSP00000301071.7:p.Ile219Met
NM_001270399.1:c.657T>G	NP_001257328.1:p.Ile219Met
NM_001270399.2:c.657T>G	NP_001257328.1:p.Ile219Met
NM_001270400.1:c.552T>G	NP_001257329.1:p.Ile184Met
NM_001270400.2:c.552T>G	NP_001257329.1:p.Ile184Met
NM_006009.3:c.657T>G	NP_006000.2:p.Ile219Met
ENST00000295766.9:c.657T>G	ENSP00000439020.2:p.Ile219Met
ENST00000301071.11:c.657T>G	ENSP00000301071.7:p.Ile219Met
ENST00000546918.1:c.*113T>G	ENSP00000446613.1:n.*113T>G
ENST00000547939.5:c.552T>G	ENSP00000450268.1:p.Ile184Met
ENST00000547939.6:c.552T>G	ENSP00000450268.2:p.Ile184Met
ENST00000550767.5:c.552T>G	ENSP00000446637.1:p.Ile184Met
ENST00000550767.6:c.552T>G	ENSP00000446637.1:p.Ile184Met
ENST00000550811.2:n.1690T>G
ENST00000552924.2:c.552T>G	ENSP00000448725.2:p.Ile184Met
ENST00000679733.1:c.*113T>G	ENSP00000505459.1:n.*113T>G