Canonical Allele Identifier: CA505189923
Gene: TUBB4A HGNC NCBI

Linked Data

gnomAD v4: 19-6495773-G-A
MyVariant Identifiers: chr19:g.6495784G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495773G>A , CM000681.2:g.6495773G>A GRCh38
NC_000019.9:g.6495784G>A , CM000681.1:g.6495784G>A GRCh37
NC_000019.8:g.6446784G>A NCBI36
NG_033896.1:g.12076C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.726C>T MANE Select ENSP00000264071.1:p.Phe242=
ENST00000264071.6:c.726C>T ENSP00000264071.1:p.Phe242=
ENST00000540257.5:c.726C>T ENSP00000443590.1:p.Phe242=
ENST00000594276.5:c.414C>T ENSP00000472481.1:p.Phe138=
NM_001289123.1:c.879C>T NP_001276052.1:p.Phe293=
NM_001289127.1:c.861C>T NP_001276056.1:p.Phe287=
NM_001289129.1:c.726C>T NP_001276058.1:p.Phe242=
NM_001289130.1:c.510C>T NP_001276059.1:p.Phe170=
NM_001289131.1:c.510C>T NP_001276060.1:p.Phe170=
NM_006087.3:c.726C>T NP_006078.2:p.Phe242=
NM_006087.4:c.726C>T MANE Select NP_006078.2:p.Phe242=
NM_001289123.2:c.879C>T NP_001276052.1:p.Phe293=
NM_001289127.2:c.861C>T NP_001276056.1:p.Phe287=
NM_001289129.2:c.726C>T NP_001276058.1:p.Phe242=
NM_001289130.2:c.510C>T NP_001276059.1:p.Phe170=
NM_001289131.2:c.510C>T NP_001276060.1:p.Phe170=