Canonical Allele Identifier: CA446550991
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382037A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046348A>G , CM000667.2:g.136046348A>G GRCh38
NC_000005.9:g.135382037A>G , CM000667.1:g.135382037A>G GRCh37
NC_000005.8:g.135409936A>G NCBI36
NG_012646.1:g.22454A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.312A>G MANE Select ENSP00000416330.2:p.Ser104=
ENST00000442011.6:c.312A>G ENSP00000416330.2:p.Ser104=
ENST00000504185.5:n.469A>G
ENST00000506699.5:n.377A>G
ENST00000507018.5:c.229A>G
ENST00000515433.1:n.604A>G
NM_000358.2:c.312A>G NP_000349.1:p.Ser104=
NM_000358.3:c.312A>G MANE Select NP_000349.1:p.Ser104=