Canonical Allele Identifier: CA403591407

Gene: TUBB4A

Linked Data

• dbSNP Id: rs1477782280
• gnomAD v2: 19-6495801-T-G
• MyVariant Identifiers: chr19:g.6495801T>G (hg19) ; chr19:g.6495790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495790T>G , CM000681.2:g.6495790T>G	GRCh38
NC_000019.9:g.6495801T>G , CM000681.1:g.6495801T>G	GRCh37
NC_000019.8:g.6446801T>G	NCBI36
NG_033896.1:g.12059A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.709A>C MANE Select	ENSP00000264071.1:p.Thr237Pro
ENST00000264071.6:c.709A>C	ENSP00000264071.1:p.Thr237Pro
ENST00000540257.5:c.709A>C	ENSP00000443590.1:p.Thr237Pro
ENST00000594276.5:c.397A>C	ENSP00000472481.1:p.Thr133Pro
NM_001289123.1:c.862A>C	NP_001276052.1:p.Thr288Pro
NM_001289127.1:c.844A>C	NP_001276056.1:p.Thr282Pro
NM_001289129.1:c.709A>C	NP_001276058.1:p.Thr237Pro
NM_001289130.1:c.493A>C	NP_001276059.1:p.Thr165Pro
NM_001289131.1:c.493A>C	NP_001276060.1:p.Thr165Pro
NM_006087.3:c.709A>C	NP_006078.2:p.Thr237Pro
NM_006087.4:c.709A>C MANE Select	NP_006078.2:p.Thr237Pro
NM_001289123.2:c.862A>C	NP_001276052.1:p.Thr288Pro
NM_001289127.2:c.844A>C	NP_001276056.1:p.Thr282Pro
NM_001289129.2:c.709A>C	NP_001276058.1:p.Thr237Pro
NM_001289130.2:c.493A>C	NP_001276059.1:p.Thr165Pro
NM_001289131.2:c.493A>C	NP_001276060.1:p.Thr165Pro