Canonical Allele Identifier: CA3733339

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32048363C>G , CM000668.2:g.32048363C>G	GRCh38
NC_000006.11:g.32016140C>G , CM000668.1:g.32016140C>G	GRCh37
NC_000006.10:g.32124118C>G	NCBI36
NG_008337.2:g.66012G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644971.2:c.10045G>C MANE Select	ENSP00000496448.1:p.Ala3349Pro
ENST00000647633.1:c.10786G>C	ENSP00000497649.1:p.Ala3596Pro
ENST00000375244.7:c.10045G>C	ENSP00000364393.3:p.Ala3349Pro
ENST00000611016.2:c.3199G>C	ENSP00000483409.1:p.Ala1067Pro
NM_019105.6:c.10039G>C	NP_061978.6:p.Ala3347Pro
NM_001365276.1:c.10045G>C	NP_001352205.1:p.Ala3349Pro
NM_019105.7:c.10039G>C	NP_061978.6:p.Ala3347Pro
NM_001365276.2:c.10045G>C MANE Select	NP_001352205.1:p.Ala3349Pro
NM_019105.8:c.10039G>C	NP_061978.6:p.Ala3347Pro