Canonical Allele Identifier: CA3734631

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32069058A>G , CM000668.2:g.32069058A>G	GRCh38
NC_000006.11:g.32036835A>G , CM000668.1:g.32036835A>G	GRCh37
NC_000006.10:g.32144813A>G	NCBI36
NG_008337.2:g.45317T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.5666T>C MANE Select	NP_001352205.1:p.Val1889Ala
ENST00000644971.2:c.5666T>C MANE Select	ENSP00000496448.1:p.Val1889Ala
NM_001365276.1:c.5666T>C	NP_001352205.1:p.Val1889Ala
NM_019105.6:c.5666T>C	NP_061978.6:p.Val1889Ala
NM_019105.7:c.5666T>C	NP_061978.6:p.Val1889Ala
NM_019105.8:c.5666T>C	NP_061978.6:p.Val1889Ala
ENST00000375244.7:c.5666T>C	ENSP00000364393.3:p.Val1889Ala
ENST00000613214.4:c.5927T>C	ENSP00000480067.1:n.5927T>C
ENST00000647633.1:c.6407T>C	ENSP00000497649.1:p.Val2136Ala