Canonical Allele Identifier: CA403591139

Gene: TUBB4A

Linked Data

• MyVariant Identifiers: chr19:g.6495754C>A (hg19) ; chr19:g.6495743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6495743C>A , CM000681.2:g.6495743C>A	GRCh38
NC_000019.9:g.6495754C>A , CM000681.1:g.6495754C>A	GRCh37
NC_000019.8:g.6446754C>A	NCBI36
NG_033896.1:g.12106G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264071.7:c.756G>T MANE Select	ENSP00000264071.1:p.Lys252Asn
ENST00000264071.6:c.756G>T	ENSP00000264071.1:p.Lys252Asn
ENST00000540257.5:c.756G>T	ENSP00000443590.1:p.Lys252Asn
ENST00000594276.5:c.444G>T	ENSP00000472481.1:p.Lys148Asn
NM_001289123.1:c.909G>T	NP_001276052.1:p.Lys303Asn
NM_001289127.1:c.891G>T	NP_001276056.1:p.Lys297Asn
NM_001289129.1:c.756G>T	NP_001276058.1:p.Lys252Asn
NM_001289130.1:c.540G>T	NP_001276059.1:p.Lys180Asn
NM_001289131.1:c.540G>T	NP_001276060.1:p.Lys180Asn
NM_006087.3:c.756G>T	NP_006078.2:p.Lys252Asn
NM_006087.4:c.756G>T MANE Select	NP_006078.2:p.Lys252Asn
NM_001289123.2:c.909G>T	NP_001276052.1:p.Lys303Asn
NM_001289127.2:c.891G>T	NP_001276056.1:p.Lys297Asn
NM_001289129.2:c.756G>T	NP_001276058.1:p.Lys252Asn
NM_001289130.2:c.540G>T	NP_001276059.1:p.Lys180Asn
NM_001289131.2:c.540G>T	NP_001276060.1:p.Lys180Asn