Canonical Allele Identifier: CA10602633
Community Standard Title: NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)
Gene: TUBB4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495769C>T , CM000681.2:g.6495769C>T GRCh38
NC_000019.9:g.6495780C>T , CM000681.1:g.6495780C>T GRCh37
NC_000019.8:g.6446780C>T NCBI36
NG_033896.1:g.12080G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006087.4:c.730G>A MANE Select NP_006078.2:p.Gly244Ser
ENST00000264071.7:c.730G>A MANE Select ENSP00000264071.1:p.Gly244Ser
NM_001289123.1:c.883G>A NP_001276052.1:p.Gly295Ser
NM_001289123.2:c.883G>A NP_001276052.1:p.Gly295Ser
NM_001289127.1:c.865G>A NP_001276056.1:p.Gly289Ser
NM_001289127.2:c.865G>A NP_001276056.1:p.Gly289Ser
NM_001289129.1:c.730G>A NP_001276058.1:p.Gly244Ser
NM_001289129.2:c.730G>A NP_001276058.1:p.Gly244Ser
NM_001289130.1:c.514G>A NP_001276059.1:p.Gly172Ser
NM_001289130.2:c.514G>A NP_001276059.1:p.Gly172Ser
NM_001289131.1:c.514G>A NP_001276060.1:p.Gly172Ser
NM_001289131.2:c.514G>A NP_001276060.1:p.Gly172Ser
NM_006087.3:c.730G>A NP_006078.2:p.Gly244Ser
ENST00000264071.6:c.730G>A ENSP00000264071.1:p.Gly244Ser
ENST00000540257.5:c.730G>A ENSP00000443590.1:p.Gly244Ser
ENST00000594276.5:c.418G>A ENSP00000472481.1:p.Gly140Ser