Canonical Allele Identifier: CA403591451
Gene: TUBB4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495800C>G , CM000681.2:g.6495800C>G GRCh38
NC_000019.9:g.6495811C>G , CM000681.1:g.6495811C>G GRCh37
NC_000019.8:g.6446811C>G NCBI36
NG_033896.1:g.12049G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.699G>C MANE Select ENSP00000264071.1:p.Met233Ile
ENST00000264071.6:c.699G>C ENSP00000264071.1:p.Met233Ile
ENST00000540257.5:c.699G>C ENSP00000443590.1:p.Met233Ile
ENST00000594276.5:c.387G>C ENSP00000472481.1:p.Met129Ile
NM_001289123.1:c.852G>C NP_001276052.1:p.Met284Ile
NM_001289127.1:c.834G>C NP_001276056.1:p.Met278Ile
NM_001289129.1:c.699G>C NP_001276058.1:p.Met233Ile
NM_001289130.1:c.483G>C NP_001276059.1:p.Met161Ile
NM_001289131.1:c.483G>C NP_001276060.1:p.Met161Ile
NM_006087.3:c.699G>C NP_006078.2:p.Met233Ile
NM_006087.4:c.699G>C MANE Select NP_006078.2:p.Met233Ile
NM_001289123.2:c.852G>C NP_001276052.1:p.Met284Ile
NM_001289127.2:c.834G>C NP_001276056.1:p.Met278Ile
NM_001289129.2:c.699G>C NP_001276058.1:p.Met233Ile
NM_001289130.2:c.483G>C NP_001276059.1:p.Met161Ile
NM_001289131.2:c.483G>C NP_001276060.1:p.Met161Ile