Canonical Allele Identifier: CA3733553

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32050058T>C , CM000668.2:g.32050058T>C	GRCh38
NC_000006.11:g.32017835T>C , CM000668.1:g.32017835T>C	GRCh37
NC_000006.10:g.32125813T>C	NCBI36
NG_008337.2:g.64317A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.9379A>G MANE Select	NP_001352205.1:p.Asn3127Asp
ENST00000644971.2:c.9379A>G MANE Select	ENSP00000496448.1:p.Asn3127Asp
NM_001365276.1:c.9379A>G	NP_001352205.1:p.Asn3127Asp
NM_019105.6:c.9373A>G	NP_061978.6:p.Asn3125Asp
NM_019105.7:c.9373A>G	NP_061978.6:p.Asn3125Asp
NM_019105.8:c.9373A>G	NP_061978.6:p.Asn3125Asp
ENST00000375244.7:c.9379A>G	ENSP00000364393.3:p.Asn3127Asp
ENST00000611016.2:c.2533A>G	ENSP00000483409.1:p.Asn845Asp
ENST00000647633.1:c.10120A>G	ENSP00000497649.1:p.Asn3374Asp