Canonical Allele Identifier: CA479717214

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49579198C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185415C>A , CM000674.2:g.49185415C>A	GRCh38
NC_000012.11:g.49579198C>A , CM000674.1:g.49579198C>A	GRCh37
NC_000012.10:g.47865465C>A	NCBI36
NG_008966.1:g.8664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.951G>T MANE Select	ENSP00000301071.7:p.Leu317=
ENST00000547939.6:c.846G>T	ENSP00000450268.2:p.Leu282=
ENST00000550767.6:c.846G>T	ENSP00000446637.1:p.Leu282=
ENST00000550811.2:n.1984G>T
ENST00000552924.2:c.846G>T	ENSP00000448725.2:p.Leu282=
ENST00000679733.1:c.*407G>T	ENSP00000505459.1:n.*407G>T
ENST00000295766.9:c.951G>T	ENSP00000439020.2:p.Leu317=
ENST00000301071.11:c.951G>T	ENSP00000301071.7:p.Leu317=
ENST00000550767.5:c.846G>T	ENSP00000446637.1:p.Leu282=
NM_001270399.1:c.951G>T	NP_001257328.1:p.Leu317=
NM_001270400.1:c.846G>T	NP_001257329.1:p.Leu282=
NM_006009.3:c.951G>T	NP_006000.2:p.Leu317=
NM_006009.4:c.951G>T MANE Select	NP_006000.2:p.Leu317=
NM_001270399.2:c.951G>T	NP_001257328.1:p.Leu317=
NM_001270400.2:c.846G>T	NP_001257329.1:p.Leu282=