Canonical Allele Identifier: CA403591183
Gene: TUBB4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495752G>C , CM000681.2:g.6495752G>C GRCh38
NC_000019.9:g.6495763G>C , CM000681.1:g.6495763G>C GRCh37
NC_000019.8:g.6446763G>C NCBI36
NG_033896.1:g.12097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.747C>G MANE Select ENSP00000264071.1:p.Asp249Glu
ENST00000264071.6:c.747C>G ENSP00000264071.1:p.Asp249Glu
ENST00000540257.5:c.747C>G ENSP00000443590.1:p.Asp249Glu
ENST00000594276.5:c.435C>G ENSP00000472481.1:p.Asp145Glu
NM_001289123.1:c.900C>G NP_001276052.1:p.Asp300Glu
NM_001289127.1:c.882C>G NP_001276056.1:p.Asp294Glu
NM_001289129.1:c.747C>G NP_001276058.1:p.Asp249Glu
NM_001289130.1:c.531C>G NP_001276059.1:p.Asp177Glu
NM_001289131.1:c.531C>G NP_001276060.1:p.Asp177Glu
NM_006087.3:c.747C>G NP_006078.2:p.Asp249Glu
NM_006087.4:c.747C>G MANE Select NP_006078.2:p.Asp249Glu
NM_001289123.2:c.900C>G NP_001276052.1:p.Asp300Glu
NM_001289127.2:c.882C>G NP_001276056.1:p.Asp294Glu
NM_001289129.2:c.747C>G NP_001276058.1:p.Asp249Glu
NM_001289130.2:c.531C>G NP_001276059.1:p.Asp177Glu
NM_001289131.2:c.531C>G NP_001276060.1:p.Asp177Glu