Canonical Allele Identifier: CA403591284

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 803516
• ClinVar RCV Id: RCV000990137
• dbSNP Id: rs886041007
• MyVariant Identifiers: chr19:g.6495780C>G (hg19) ; chr19:g.6495769C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.730G>C MANE Select	ENSP00000264071.1:p.Gly244Arg
ENST00000264071.6:c.730G>C	ENSP00000264071.1:p.Gly244Arg
ENST00000540257.5:c.730G>C	ENSP00000443590.1:p.Gly244Arg
ENST00000594276.5:c.418G>C	ENSP00000472481.1:p.Gly140Arg
NM_001289123.1:c.883G>C	NP_001276052.1:p.Gly295Arg
NM_001289127.1:c.865G>C	NP_001276056.1:p.Gly289Arg
NM_001289129.1:c.730G>C	NP_001276058.1:p.Gly244Arg
NM_001289130.1:c.514G>C	NP_001276059.1:p.Gly172Arg
NM_001289131.1:c.514G>C	NP_001276060.1:p.Gly172Arg
NM_006087.3:c.730G>C	NP_006078.2:p.Gly244Arg
NM_006087.4:c.730G>C MANE Select	NP_006078.2:p.Gly244Arg
NM_001289123.2:c.883G>C	NP_001276052.1:p.Gly295Arg
NM_001289127.2:c.865G>C	NP_001276056.1:p.Gly289Arg
NM_001289129.2:c.730G>C	NP_001276058.1:p.Gly244Arg
NM_001289130.2:c.514G>C	NP_001276059.1:p.Gly172Arg
NM_001289131.2:c.514G>C	NP_001276060.1:p.Gly172Arg