Canonical Allele Identifier: CA185905

Gene: TUBA4A

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219251266T>G , CM000664.2:g.219251266T>G	GRCh38
NC_000002.11:g.220115988T>G , CM000664.1:g.220115988T>G	GRCh37
NC_000002.10:g.219824232T>G	NCBI36
NG_029913.1:g.7651A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427737.6:c.388A>C	ENSP00000408194.1:p.Thr130Pro
ENST00000248437.9:c.433A>C MANE Select	ENSP00000248437.4:p.Thr145Pro
ENST00000248437.8:c.433A>C	ENSP00000248437.4:p.Thr145Pro
ENST00000392088.6:c.388A>C	ENSP00000375938.2:p.Thr130Pro
ENST00000398989.2:c.-27A>C	ENSP00000396212.1:n.-27A>C
ENST00000427737.5:c.388A>C	ENSP00000408194.1:p.Thr130Pro
ENST00000447205.1:c.388A>C	ENSP00000396061.1:p.Thr130Pro
ENST00000456818.5:c.502A>C	ENSP00000416992.1:p.Thr168Pro
ENST00000462806.5:n.732A>C
ENST00000498660.1:n.253A>C
NM_001278552.1:c.388A>C	NP_001265481.1:p.Thr130Pro
NM_006000.2:c.433A>C	NP_005991.1:p.Thr145Pro
XM_005246832.1:c.388A>C	XP_005246889.1:p.Thr130Pro
XM_017004824.1:c.-27A>C	XP_016860313.1:n.-27A>C
NM_006000.3:c.433A>C MANE Select	NP_005991.1:p.Thr145Pro
NM_001278552.2:c.388A>C	NP_001265481.1:p.Thr130Pro