Canonical Allele Identifier: CA384642520

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579697G>C (hg19) ; chr12:g.49185914G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185914G>C , CM000674.2:g.49185914G>C	GRCh38
NC_000012.11:g.49579697G>C , CM000674.1:g.49579697G>C	GRCh37
NC_000012.10:g.47865964G>C	NCBI36
NG_008966.1:g.8165C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.452C>G MANE Select	ENSP00000301071.7:p.Ser151Trp
ENST00000547939.6:c.347C>G	ENSP00000450268.2:p.Ser116Trp
ENST00000550767.6:c.347C>G	ENSP00000446637.1:p.Ser116Trp
ENST00000550811.2:n.1485C>G
ENST00000552924.2:c.347C>G	ENSP00000448725.2:p.Ser116Trp
ENST00000679733.1:c.475C>G	ENSP00000505459.1:p.Arg159Gly
ENST00000295766.9:c.452C>G	ENSP00000439020.2:p.Ser151Trp
ENST00000301071.11:c.452C>G	ENSP00000301071.7:p.Ser151Trp
ENST00000546918.1:c.604C>G	ENSP00000446613.1:p.Arg202Gly
ENST00000547939.5:c.347C>G	ENSP00000450268.1:p.Ser116Trp
ENST00000550767.5:c.347C>G	ENSP00000446637.1:p.Ser116Trp
NM_001270399.1:c.452C>G	NP_001257328.1:p.Ser151Trp
NM_001270400.1:c.347C>G	NP_001257329.1:p.Ser116Trp
NM_006009.3:c.452C>G	NP_006000.2:p.Ser151Trp
NM_006009.4:c.452C>G MANE Select	NP_006000.2:p.Ser151Trp
NM_001270399.2:c.452C>G	NP_001257328.1:p.Ser151Trp
NM_001270400.2:c.347C>G	NP_001257329.1:p.Ser116Trp