Canonical Allele Identifier: CA479717651

Gene: TUBA1A

Linked Data

• dbSNP Id: rs1440511933
• gnomAD v2: 12-49580542-C-T
• gnomAD v3: 12-49186759-C-T
• gnomAD v4: 12-49186759-C-T
• MyVariant Identifiers: chr12:g.49580542C>T (hg19) ; chr12:g.49186759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49186759C>T , CM000674.2:g.49186759C>T	GRCh38
NC_000012.11:g.49580542C>T , CM000674.1:g.49580542C>T	GRCh37
NC_000012.10:g.47866809C>T	NCBI36
NG_008966.1:g.7320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000301071.12:c.78G>A MANE Select	ENSP00000301071.7:p.Leu26=
ENST00000547939.6:c.-28G>A	ENSP00000450268.2:n.-28G>A
ENST00000550767.6:c.-28G>A	ENSP00000446637.1:n.-28G>A
ENST00000550811.2:n.1111G>A
ENST00000552924.2:c.-28G>A	ENSP00000448725.2:n.-28G>A
ENST00000679733.1:c.78G>A	ENSP00000505459.1:p.Leu26=
ENST00000295766.9:c.78G>A	ENSP00000439020.2:p.Leu26=
ENST00000301071.11:c.78G>A	ENSP00000301071.7:p.Leu26=
ENST00000546918.1:c.78G>A	ENSP00000446613.1:p.Leu26=
ENST00000547939.5:c.-28G>A	ENSP00000450268.1:n.-28G>A
ENST00000548363.1:n.82G>A
ENST00000550254.1:n.100G>A
ENST00000550767.5:c.-28G>A	ENSP00000446637.1:n.-28G>A
ENST00000550811.1:c.-28G>A	ENSP00000449016.1:n.-28G>A
ENST00000552924.1:c.-28G>A	ENSP00000448725.1:n.-28G>A
NM_001270399.1:c.78G>A	NP_001257328.1:p.Leu26=
NM_001270400.1:c.-28G>A	NP_001257329.1:n.-28G>A
NM_006009.3:c.78G>A	NP_006000.2:p.Leu26=
NM_006009.4:c.78G>A MANE Select	NP_006000.2:p.Leu26=
NM_001270399.2:c.78G>A	NP_001257328.1:p.Leu26=
NM_001270400.2:c.-28G>A	NP_001257329.1:n.-28G>A