Canonical Allele Identifier: CA2578412860
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046547T>G , CM000667.2:g.136046547T>G GRCh38
NC_000005.9:g.135382236T>G , CM000667.1:g.135382236T>G GRCh37
NC_000005.8:g.135410135T>G NCBI36
NG_012646.1:g.22653T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+52T>G MANE Select ENSP00000416330.2:n.459+52T>G
ENST00000442011.6:c.459+52T>G ENSP00000416330.2:n.459+52T>G
ENST00000506699.5:n.576T>G
ENST00000507018.5:c.428T>G
ENST00000515433.1:n.803T>G
NM_000358.2:c.459+52T>G NP_000349.1:n.459+52T>G
NM_000358.3:c.459+52T>G MANE Select NP_000349.1:n.459+52T>G
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