Canonical Allele Identifier: CA6550256

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1555162421
• ExAC: 12:49579780 C / T
• gnomAD v2: 12-49579780-C-T
• gnomAD v4: 12-49185997-C-T
• MyVariant Identifiers: chr12:g.49579780C>T (hg19) ; chr12:g.49579780_49579782delinsTAA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185997C>T , CM000674.2:g.49185997C>T	GRCh38
NC_000012.11:g.49579780C>T , CM000674.1:g.49579780C>T	GRCh37
NC_000012.10:g.47866047C>T	NCBI36
NG_008966.1:g.8082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.376-7G>A MANE Select	ENSP00000301071.7:n.376-7G>A
ENST00000547939.6:c.271-7G>A	ENSP00000450268.2:n.271-7G>A
ENST00000550767.6:c.271-7G>A	ENSP00000446637.1:n.271-7G>A
ENST00000550811.2:n.1409-7G>A
ENST00000552924.2:c.271-7G>A	ENSP00000448725.2:n.271-7G>A
ENST00000679733.1:c.399-7G>A	ENSP00000505459.1:n.399-7G>A
ENST00000295766.9:c.376-7G>A	ENSP00000439020.2:n.376-7G>A
ENST00000301071.11:c.376-7G>A	ENSP00000301071.7:n.376-7G>A
ENST00000546918.1:c.528-7G>A	ENSP00000446613.1:n.528-7G>A
ENST00000547939.5:c.271-7G>A	ENSP00000450268.1:n.271-7G>A
ENST00000550767.5:c.271-7G>A	ENSP00000446637.1:n.271-7G>A
ENST00000552924.1:c.271-7G>A	ENSP00000448725.1:n.271-7G>A
NM_001270399.1:c.376-7G>A	NP_001257328.1:n.376-7G>A
NM_001270400.1:c.271-7G>A	NP_001257329.1:n.271-7G>A
NM_006009.3:c.376-7G>A	NP_006000.2:n.376-7G>A
NM_006009.4:c.376-7G>A MANE Select	NP_006000.2:n.376-7G>A
NM_001270399.2:c.376-7G>A	NP_001257328.1:n.376-7G>A
NM_001270400.2:c.271-7G>A	NP_001257329.1:n.271-7G>A