Canonical Allele Identifier: CA3735829

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32097302G>A , CM000668.2:g.32097302G>A	GRCh38
NC_000006.11:g.32065079G>A , CM000668.1:g.32065079G>A	GRCh37
NC_000006.10:g.32173057G>A	NCBI36
NG_008337.2:g.17073C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.551C>T MANE Select	NP_001352205.1:p.Ser184Leu
ENST00000644971.2:c.551C>T MANE Select	ENSP00000496448.1:p.Ser184Leu
NM_001365276.1:c.551C>T	NP_001352205.1:p.Ser184Leu
NM_019105.6:c.551C>T	NP_061978.6:p.Ser184Leu
NM_019105.7:c.551C>T	NP_061978.6:p.Ser184Leu
NM_019105.8:c.551C>T	NP_061978.6:p.Ser184Leu
ENST00000375244.7:c.551C>T	ENSP00000364393.3:p.Ser184Leu
ENST00000479795.1:c.551C>T	ENSP00000418248.1:p.Ser184Leu
ENST00000486148.1:n.946C>T
ENST00000613214.4:c.551C>T	ENSP00000480067.1:p.Ser184Leu
ENST00000647633.1:c.551C>T	ENSP00000497649.1:p.Ser184Leu