Canonical Allele Identifier: CA384645752

Gene: TUBA1A

Linked Data

• MyVariant Identifiers: chr12:g.49580545G>C (hg19) ; chr12:g.49186762G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.75C>G MANE Select	ENSP00000301071.7:p.Cys25Trp
ENST00000547939.6:c.-31C>G	ENSP00000450268.2:n.-31C>G
ENST00000550767.6:c.-31C>G	ENSP00000446637.1:n.-31C>G
ENST00000550811.2:n.1108C>G
ENST00000552924.2:c.-31C>G	ENSP00000448725.2:n.-31C>G
ENST00000679733.1:c.75C>G	ENSP00000505459.1:p.Cys25Trp
ENST00000295766.9:c.75C>G	ENSP00000439020.2:p.Cys25Trp
ENST00000301071.11:c.75C>G	ENSP00000301071.7:p.Cys25Trp
ENST00000546918.1:c.75C>G	ENSP00000446613.1:p.Cys25Trp
ENST00000547939.5:c.-31C>G	ENSP00000450268.1:n.-31C>G
ENST00000548363.1:n.79C>G
ENST00000550254.1:n.97C>G
ENST00000550767.5:c.-31C>G	ENSP00000446637.1:n.-31C>G
ENST00000550811.1:c.-31C>G	ENSP00000449016.1:n.-31C>G
ENST00000552924.1:c.-31C>G	ENSP00000448725.1:n.-31C>G
NM_001270399.1:c.75C>G	NP_001257328.1:p.Cys25Trp
NM_001270400.1:c.-31C>G	NP_001257329.1:n.-31C>G
NM_006009.3:c.75C>G	NP_006000.2:p.Cys25Trp
NM_006009.4:c.75C>G MANE Select	NP_006000.2:p.Cys25Trp
NM_001270399.2:c.75C>G	NP_001257328.1:p.Cys25Trp
NM_001270400.2:c.-31C>G	NP_001257329.1:n.-31C>G