Canonical Allele Identifier: CA2575583984

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75961134A>T , CM000676.2:g.75961134A>T GRCh38
NC_000014.8:g.76427477A>T , CM000676.1:g.76427477A>T GRCh37
NC_000014.7:g.75497230A>T NCBI36
NG_011715.1:g.25616T>A , LRG_399:g.25616T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000238682.8:c.927-58T>A (TGFB3) MANE Select ENSP00000238682.3:n.927-58T>A
ENST00000556674.2:c.927-58T>A (TGFB3) ENSP00000502685.1:n.927-58T>A
ENST00000238682.7:c.927-58T>A (TGFB3) ENSP00000238682.3:n.927-58T>A
ENST00000554980.5:n.1308-58T>A (TGFB3)
ENST00000555677.5:n.90-27751A>T (IFT43)
ENST00000557493.1:n.393-58T>A (TGFB3)
NM_003239.3:c.927-58T>A (TGFB3) NP_003230.1:n.927-58T>A
XM_005268028.1:c.927-58T>A (TGFB3) XP_005268085.1:n.927-58T>A
NM_001329939.1:c.927-58T>A (TGFB3) NP_001316868.1:n.927-58T>A
NM_003239.4:c.927-58T>A (TGFB3) NP_003230.1:n.927-58T>A
NM_001329939.2:c.927-58T>A (TGFB3) NP_001316868.1:n.927-58T>A
NM_003239.5:c.927-58T>A (TGFB3) MANE Select NP_003230.1:n.927-58T>A