Canonical Allele Identifier: CA361032437
Gene: TGFBI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046338T>C , CM000667.2:g.136046338T>C GRCh38
NC_000005.9:g.135382027T>C , CM000667.1:g.135382027T>C GRCh37
NC_000005.8:g.135409926T>C NCBI36
NG_012646.1:g.22444T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.302T>C MANE Select ENSP00000416330.2:p.Leu101Pro
ENST00000442011.6:c.302T>C ENSP00000416330.2:p.Leu101Pro
ENST00000504185.5:n.459T>C
ENST00000506699.5:n.367T>C
ENST00000507018.5:c.219T>C
ENST00000515433.1:n.594T>C
NM_000358.2:c.302T>C NP_000349.1:p.Leu101Pro
NM_000358.3:c.302T>C MANE Select NP_000349.1:p.Leu101Pro