Canonical Allele Identifier: CA403595363
Gene: TUBB4A HGNC NCBI

Linked Data

dbSNP Id: rs587777467
gnomAD v2: 19-6502219-C-G
gnomAD v4: 19-6502208-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6502208C>G , CM000681.2:g.6502208C>G GRCh38
NC_000019.9:g.6502219C>G , CM000681.1:g.6502219C>G GRCh37
NC_000019.8:g.6453219C>G NCBI36
NG_033896.1:g.5641G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264071.7:c.5G>C MANE Select ENSP00000264071.1:p.Arg2Pro
ENST00000264071.6:c.5G>C ENSP00000264071.1:p.Arg2Pro
ENST00000540257.5:c.5G>C ENSP00000443590.1:p.Arg2Pro
ENST00000594075.5:c.5G>C ENSP00000469936.1:p.Arg2Pro
ENST00000594276.5:c.5G>C ENSP00000472481.1:p.Arg2Pro
ENST00000594290.5:c.5G>C ENSP00000471503.1:p.Arg2Pro
ENST00000595324.5:c.5G>C ENSP00000469560.1:p.Arg2Pro
ENST00000596926.5:c.5G>C ENSP00000468843.1:p.Arg2Pro
ENST00000597686.5:c.140G>C ENSP00000472375.1:p.Arg47Pro
ENST00000598006.1:c.5G>C ENSP00000472795.1:p.Arg2Pro
ENST00000598635.1:c.158G>C ENSP00000470627.1:p.Arg53Pro
ENST00000600216.5:c.5G>C ENSP00000470983.1:p.Arg2Pro
ENST00000601152.5:c.5G>C ENSP00000471320.1:p.Arg2Pro
ENST00000601640.5:c.5G>C ENSP00000469660.1:p.Arg2Pro
NM_001289123.1:c.158G>C NP_001276052.1:p.Arg53Pro
NM_001289127.1:c.140G>C NP_001276056.1:p.Arg47Pro
NM_001289129.1:c.5G>C NP_001276058.1:p.Arg2Pro
NM_001289130.1:c.-169G>C NP_001276059.1:n.-169G>C
NM_001289131.1:c.-136G>C NP_001276060.1:n.-136G>C
NM_006087.3:c.5G>C NP_006078.2:p.Arg2Pro
NM_006087.4:c.5G>C MANE Select NP_006078.2:p.Arg2Pro
NM_001289123.2:c.158G>C NP_001276052.1:p.Arg53Pro
NM_001289127.2:c.140G>C NP_001276056.1:p.Arg47Pro
NM_001289129.2:c.5G>C NP_001276058.1:p.Arg2Pro
NM_001289130.2:c.-169G>C NP_001276059.1:n.-169G>C
NM_001289131.2:c.-136G>C NP_001276060.1:n.-136G>C