Canonical Allele Identifier: CA479717604
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs772518269
MyVariant Identifiers: chr12:g.49580488T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186705T>C , CM000674.2:g.49186705T>C GRCh38
NC_000012.11:g.49580488T>C , CM000674.1:g.49580488T>C GRCh37
NC_000012.10:g.47866755T>C NCBI36
NG_008966.1:g.7374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301071.12:c.132A>G MANE Select ENSP00000301071.7:p.Gly44=
ENST00000547939.6:c.27A>G ENSP00000450268.2:p.Gly9=
ENST00000550767.6:c.27A>G ENSP00000446637.1:p.Gly9=
ENST00000550811.2:n.1165A>G
ENST00000552924.2:c.27A>G ENSP00000448725.2:p.Gly9=
ENST00000679733.1:c.132A>G ENSP00000505459.1:p.Gly44=
ENST00000295766.9:c.132A>G ENSP00000439020.2:p.Gly44=
ENST00000301071.11:c.132A>G ENSP00000301071.7:p.Gly44=
ENST00000546918.1:c.132A>G ENSP00000446613.1:p.Gly44=
ENST00000547939.5:c.27A>G ENSP00000450268.1:p.Gly9=
ENST00000548363.1:n.136A>G
ENST00000550254.1:n.154A>G
ENST00000550767.5:c.27A>G ENSP00000446637.1:p.Gly9=
ENST00000550811.1:c.27A>G ENSP00000449016.1:p.Gly9=
ENST00000552924.1:c.27A>G ENSP00000448725.1:p.Gly9=
NM_001270399.1:c.132A>G NP_001257328.1:p.Gly44=
NM_001270400.1:c.27A>G NP_001257329.1:p.Gly9=
NM_006009.3:c.132A>G NP_006000.2:p.Gly44=
NM_006009.4:c.132A>G MANE Select NP_006000.2:p.Gly44=
NM_001270399.2:c.132A>G NP_001257328.1:p.Gly44=
NM_001270400.2:c.27A>G NP_001257329.1:p.Gly9=