Canonical Allele Identifier: CA479717656
Gene: TUBA1A HGNC NCBI

Linked Data

dbSNP Id: rs1592260516
MyVariant Identifiers: chr12:g.49580545G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.49186762G>A , CM000674.2:g.49186762G>A GRCh38
NC_000012.11:g.49580545G>A , CM000674.1:g.49580545G>A GRCh37
NC_000012.10:g.47866812G>A NCBI36
NG_008966.1:g.7317C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000301071.12:c.75C>T MANE Select ENSP00000301071.7:p.Cys25=
ENST00000547939.6:c.-31C>T ENSP00000450268.2:n.-31C>T
ENST00000550767.6:c.-31C>T ENSP00000446637.1:n.-31C>T
ENST00000550811.2:n.1108C>T
ENST00000552924.2:c.-31C>T ENSP00000448725.2:n.-31C>T
ENST00000679733.1:c.75C>T ENSP00000505459.1:p.Cys25=
ENST00000295766.9:c.75C>T ENSP00000439020.2:p.Cys25=
ENST00000301071.11:c.75C>T ENSP00000301071.7:p.Cys25=
ENST00000546918.1:c.75C>T ENSP00000446613.1:p.Cys25=
ENST00000547939.5:c.-31C>T ENSP00000450268.1:n.-31C>T
ENST00000548363.1:n.79C>T
ENST00000550254.1:n.97C>T
ENST00000550767.5:c.-31C>T ENSP00000446637.1:n.-31C>T
ENST00000550811.1:c.-31C>T ENSP00000449016.1:n.-31C>T
ENST00000552924.1:c.-31C>T ENSP00000448725.1:n.-31C>T
NM_001270399.1:c.75C>T NP_001257328.1:p.Cys25=
NM_001270400.1:c.-31C>T NP_001257329.1:n.-31C>T
NM_006009.3:c.75C>T NP_006000.2:p.Cys25=
NM_006009.4:c.75C>T MANE Select NP_006000.2:p.Cys25=
NM_001270399.2:c.75C>T NP_001257328.1:p.Cys25=
NM_001270400.2:c.-31C>T NP_001257329.1:n.-31C>T