Canonical Allele Identifier: CA250401

Gene: TUBB4A

Linked Data

• ClinVar Variation Id: 209201
• ClinVar RCV Id: RCV000191139
• dbSNP Id: rs797045074
• MyVariant Identifiers: chr19:g.6495346C>G (hg19) ; chr19:g.6495335C>G (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495335C>G , CM000681.2:g.6495335C>G	GRCh38
NC_000019.9:g.6495346C>G , CM000681.1:g.6495346C>G	GRCh37
NC_000019.8:g.6446346C>G	NCBI36
NG_033896.1:g.12514G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.1164G>C MANE Select	ENSP00000264071.1:p.Met388Ile
ENST00000264071.6:c.1164G>C	ENSP00000264071.1:p.Met388Ile
ENST00000540257.5:c.1164G>C	ENSP00000443590.1:p.Met388Ile
NM_001289123.1:c.1317G>C	NP_001276052.1:p.Met439Ile
NM_001289127.1:c.1299G>C	NP_001276056.1:p.Met433Ile
NM_001289129.1:c.1164G>C	NP_001276058.1:p.Met388Ile
NM_001289130.1:c.948G>C	NP_001276059.1:p.Met316Ile
NM_001289131.1:c.948G>C	NP_001276060.1:p.Met316Ile
NM_006087.3:c.1164G>C	NP_006078.2:p.Met388Ile
NM_006087.4:c.1164G>C MANE Select	NP_006078.2:p.Met388Ile
NM_001289123.2:c.1317G>C	NP_001276052.1:p.Met439Ile
NM_001289127.2:c.1299G>C	NP_001276056.1:p.Met433Ile
NM_001289129.2:c.1164G>C	NP_001276058.1:p.Met388Ile
NM_001289130.2:c.948G>C	NP_001276059.1:p.Met316Ile
NM_001289131.2:c.948G>C	NP_001276060.1:p.Met316Ile