Canonical Allele Identifier: CA505189848
Gene: TUBB4A HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.6495751C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495740C>G , CM000681.2:g.6495740C>G GRCh38
NC_000019.9:g.6495751C>G , CM000681.1:g.6495751C>G GRCh37
NC_000019.8:g.6446751C>G NCBI36
NG_033896.1:g.12109G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.759G>C MANE Select ENSP00000264071.1:p.Leu253=
ENST00000264071.6:c.759G>C ENSP00000264071.1:p.Leu253=
ENST00000540257.5:c.759G>C ENSP00000443590.1:p.Leu253=
ENST00000594276.5:c.447G>C ENSP00000472481.1:p.Leu149=
NM_001289123.1:c.912G>C NP_001276052.1:p.Leu304=
NM_001289127.1:c.894G>C NP_001276056.1:p.Leu298=
NM_001289129.1:c.759G>C NP_001276058.1:p.Leu253=
NM_001289130.1:c.543G>C NP_001276059.1:p.Leu181=
NM_001289131.1:c.543G>C NP_001276060.1:p.Leu181=
NM_006087.3:c.759G>C NP_006078.2:p.Leu253=
NM_006087.4:c.759G>C MANE Select NP_006078.2:p.Leu253=
NM_001289123.2:c.912G>C NP_001276052.1:p.Leu304=
NM_001289127.2:c.894G>C NP_001276056.1:p.Leu298=
NM_001289129.2:c.759G>C NP_001276058.1:p.Leu253=
NM_001289130.2:c.543G>C NP_001276059.1:p.Leu181=
NM_001289131.2:c.543G>C NP_001276060.1:p.Leu181=