Canonical Allele Identifier: CA3735115

Gene: TNXB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32081652G>A , CM000668.2:g.32081652G>A	GRCh38
NC_000006.11:g.32049429G>A , CM000668.1:g.32049429G>A	GRCh37
NC_000006.10:g.32157407G>A	NCBI36
NG_008337.2:g.32723C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365276.2:c.3758C>T MANE Select	NP_001352205.1:p.Pro1253Leu
ENST00000644971.2:c.3758C>T MANE Select	ENSP00000496448.1:p.Pro1253Leu
NM_001365276.1:c.3758C>T	NP_001352205.1:p.Pro1253Leu
NM_019105.6:c.3758C>T	NP_061978.6:p.Pro1253Leu
NM_019105.7:c.3758C>T	NP_061978.6:p.Pro1253Leu
NM_019105.8:c.3758C>T	NP_061978.6:p.Pro1253Leu
ENST00000375244.7:c.3758C>T	ENSP00000364393.3:p.Pro1253Leu
ENST00000613214.4:c.4019C>T	ENSP00000480067.1:p.Pro1340Leu
ENST00000647633.1:c.4499C>T	ENSP00000497649.1:p.Pro1500Leu