Canonical Allele Identifier: CA505189898
Gene: TUBB4A HGNC NCBI

Linked Data

dbSNP Id: rs1914129764
MyVariant Identifiers: chr19:g.6495772C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6495761C>T , CM000681.2:g.6495761C>T GRCh38
NC_000019.9:g.6495772C>T , CM000681.1:g.6495772C>T GRCh37
NC_000019.8:g.6446772C>T NCBI36
NG_033896.1:g.12088G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264071.7:c.738G>A MANE Select ENSP00000264071.1:p.Leu246=
ENST00000264071.6:c.738G>A ENSP00000264071.1:p.Leu246=
ENST00000540257.5:c.738G>A ENSP00000443590.1:p.Leu246=
ENST00000594276.5:c.426G>A ENSP00000472481.1:p.Leu142=
NM_001289123.1:c.891G>A NP_001276052.1:p.Leu297=
NM_001289127.1:c.873G>A NP_001276056.1:p.Leu291=
NM_001289129.1:c.738G>A NP_001276058.1:p.Leu246=
NM_001289130.1:c.522G>A NP_001276059.1:p.Leu174=
NM_001289131.1:c.522G>A NP_001276060.1:p.Leu174=
NM_006087.3:c.738G>A NP_006078.2:p.Leu246=
NM_006087.4:c.738G>A MANE Select NP_006078.2:p.Leu246=
NM_001289123.2:c.891G>A NP_001276052.1:p.Leu297=
NM_001289127.2:c.873G>A NP_001276056.1:p.Leu291=
NM_001289129.2:c.738G>A NP_001276058.1:p.Leu246=
NM_001289130.2:c.522G>A NP_001276059.1:p.Leu174=
NM_001289131.2:c.522G>A NP_001276060.1:p.Leu174=