Canonical Allele Identifier: CA403591526

Gene: TUBB4A

Linked Data

• MyVariant Identifiers: chr19:g.6495827A>C (hg19) ; chr19:g.6495816A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495816A>C , CM000681.2:g.6495816A>C	GRCh38
NC_000019.9:g.6495827A>C , CM000681.1:g.6495827A>C	GRCh37
NC_000019.8:g.6446827A>C	NCBI36
NG_033896.1:g.12033T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.683T>G MANE Select	ENSP00000264071.1:p.Leu228Arg
ENST00000264071.6:c.683T>G	ENSP00000264071.1:p.Leu228Arg
ENST00000540257.5:c.683T>G	ENSP00000443590.1:p.Leu228Arg
ENST00000594075.5:c.473T>G	ENSP00000469936.1:p.Leu158Arg
ENST00000594276.5:c.371T>G	ENSP00000472481.1:p.Leu124Arg
ENST00000600216.5:c.425T>G	ENSP00000470983.1:p.Leu142Arg
NM_001289123.1:c.836T>G	NP_001276052.1:p.Leu279Arg
NM_001289127.1:c.818T>G	NP_001276056.1:p.Leu273Arg
NM_001289129.1:c.683T>G	NP_001276058.1:p.Leu228Arg
NM_001289130.1:c.467T>G	NP_001276059.1:p.Leu156Arg
NM_001289131.1:c.467T>G	NP_001276060.1:p.Leu156Arg
NM_006087.3:c.683T>G	NP_006078.2:p.Leu228Arg
NM_006087.4:c.683T>G MANE Select	NP_006078.2:p.Leu228Arg
NM_001289123.2:c.836T>G	NP_001276052.1:p.Leu279Arg
NM_001289127.2:c.818T>G	NP_001276056.1:p.Leu273Arg
NM_001289129.2:c.683T>G	NP_001276058.1:p.Leu228Arg
NM_001289130.2:c.467T>G	NP_001276059.1:p.Leu156Arg
NM_001289131.2:c.467T>G	NP_001276060.1:p.Leu156Arg