Canonical Allele Identifier: CA403591389

Gene: TUBB4A

Linked Data

• gnomAD v4: 19-6495786-G-T
• MyVariant Identifiers: chr19:g.6495797G>T (hg19) ; chr19:g.6495786G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495786G>T , CM000681.2:g.6495786G>T	GRCh38
NC_000019.9:g.6495797G>T , CM000681.1:g.6495797G>T	GRCh37
NC_000019.8:g.6446797G>T	NCBI36
NG_033896.1:g.12063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.713C>A MANE Select	ENSP00000264071.1:p.Thr238Asn
ENST00000264071.6:c.713C>A	ENSP00000264071.1:p.Thr238Asn
ENST00000540257.5:c.713C>A	ENSP00000443590.1:p.Thr238Asn
ENST00000594276.5:c.401C>A	ENSP00000472481.1:p.Thr134Asn
NM_001289123.1:c.866C>A	NP_001276052.1:p.Thr289Asn
NM_001289127.1:c.848C>A	NP_001276056.1:p.Thr283Asn
NM_001289129.1:c.713C>A	NP_001276058.1:p.Thr238Asn
NM_001289130.1:c.497C>A	NP_001276059.1:p.Thr166Asn
NM_001289131.1:c.497C>A	NP_001276060.1:p.Thr166Asn
NM_006087.3:c.713C>A	NP_006078.2:p.Thr238Asn
NM_006087.4:c.713C>A MANE Select	NP_006078.2:p.Thr238Asn
NM_001289123.2:c.866C>A	NP_001276052.1:p.Thr289Asn
NM_001289127.2:c.848C>A	NP_001276056.1:p.Thr283Asn
NM_001289129.2:c.713C>A	NP_001276058.1:p.Thr238Asn
NM_001289130.2:c.497C>A	NP_001276059.1:p.Thr166Asn
NM_001289131.2:c.497C>A	NP_001276060.1:p.Thr166Asn