Canonical Allele Identifier: CA479717162

Gene: TUBA1A

Linked Data

• gnomAD v4: 12-49185568-G-A
• MyVariant Identifiers: chr12:g.49579351G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185568G>A , CM000674.2:g.49185568G>A	GRCh38
NC_000012.11:g.49579351G>A , CM000674.1:g.49579351G>A	GRCh37
NC_000012.10:g.47865618G>A	NCBI36
NG_008966.1:g.8511C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.798C>T MANE Select	ENSP00000301071.7:p.His266=
ENST00000547939.6:c.693C>T	ENSP00000450268.2:p.His231=
ENST00000550767.6:c.693C>T	ENSP00000446637.1:p.His231=
ENST00000550811.2:n.1831C>T
ENST00000552924.2:c.693C>T	ENSP00000448725.2:p.His231=
ENST00000679733.1:c.*254C>T	ENSP00000505459.1:n.*254C>T
ENST00000295766.9:c.798C>T	ENSP00000439020.2:p.His266=
ENST00000301071.11:c.798C>T	ENSP00000301071.7:p.His266=
ENST00000550767.5:c.693C>T	ENSP00000446637.1:p.His231=
NM_001270399.1:c.798C>T	NP_001257328.1:p.His266=
NM_001270400.1:c.693C>T	NP_001257329.1:p.His231=
NM_006009.3:c.798C>T	NP_006000.2:p.His266=
NM_006009.4:c.798C>T MANE Select	NP_006000.2:p.His266=
NM_001270399.2:c.798C>T	NP_001257328.1:p.His266=
NM_001270400.2:c.693C>T	NP_001257329.1:p.His231=