Canonical Allele Identifier: CA3733999

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32056775C>T , CM000668.2:g.32056775C>T	GRCh38
NC_000006.11:g.32024552C>T , CM000668.1:g.32024552C>T	GRCh37
NC_000006.10:g.32132530C>T	NCBI36
NG_008337.2:g.57600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.7954G>A MANE Select	NP_001352205.1:p.Glu2652Lys
ENST00000644971.2:c.7954G>A MANE Select	ENSP00000496448.1:p.Glu2652Lys
NM_001365276.1:c.7954G>A	NP_001352205.1:p.Glu2652Lys
NM_019105.6:c.7954G>A	NP_061978.6:p.Glu2652Lys
NM_019105.7:c.7954G>A	NP_061978.6:p.Glu2652Lys
NM_019105.8:c.7954G>A	NP_061978.6:p.Glu2652Lys
ENST00000375244.7:c.7954G>A	ENSP00000364393.3:p.Glu2652Lys
ENST00000611016.2:c.1114G>A	ENSP00000483409.1:p.Glu372Lys
ENST00000647633.1:c.8695G>A	ENSP00000497649.1:p.Glu2899Lys