Canonical Allele Identifier: CA479717394

Gene: TUBA1A

Linked Data

• gnomAD v4: 12-49185487-A-G
• MyVariant Identifiers: chr12:g.49579270A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185487A>G , CM000674.2:g.49185487A>G	GRCh38
NC_000012.11:g.49579270A>G , CM000674.1:g.49579270A>G	GRCh37
NC_000012.10:g.47865537A>G	NCBI36
NG_008966.1:g.8592T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.879T>C MANE Select	ENSP00000301071.7:p.Asn293=
ENST00000547939.6:c.774T>C	ENSP00000450268.2:p.Asn258=
ENST00000550767.6:c.774T>C	ENSP00000446637.1:p.Asn258=
ENST00000550811.2:n.1912T>C
ENST00000552924.2:c.774T>C	ENSP00000448725.2:p.Asn258=
ENST00000679733.1:c.*335T>C	ENSP00000505459.1:n.*335T>C
ENST00000295766.9:c.879T>C	ENSP00000439020.2:p.Asn293=
ENST00000301071.11:c.879T>C	ENSP00000301071.7:p.Asn293=
ENST00000550767.5:c.774T>C	ENSP00000446637.1:p.Asn258=
NM_001270399.1:c.879T>C	NP_001257328.1:p.Asn293=
NM_001270400.1:c.774T>C	NP_001257329.1:p.Asn258=
NM_006009.3:c.879T>C	NP_006000.2:p.Asn293=
NM_006009.4:c.879T>C MANE Select	NP_006000.2:p.Asn293=
NM_001270399.2:c.879T>C	NP_001257328.1:p.Asn293=
NM_001270400.2:c.774T>C	NP_001257329.1:p.Asn258=