Canonical Allele Identifier: CA446551044
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382110A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046421A>C , CM000667.2:g.136046421A>C GRCh38
NC_000005.9:g.135382110A>C , CM000667.1:g.135382110A>C GRCh37
NC_000005.8:g.135410009A>C NCBI36
NG_012646.1:g.22527A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.385A>C MANE Select ENSP00000416330.2:p.Arg129=
ENST00000442011.6:c.385A>C ENSP00000416330.2:p.Arg129=
ENST00000504185.5:n.542A>C
ENST00000506699.5:n.450A>C
ENST00000507018.5:c.302A>C
ENST00000515433.1:n.677A>C
NM_000358.2:c.385A>C NP_000349.1:p.Arg129=
NM_000358.3:c.385A>C MANE Select NP_000349.1:p.Arg129=
Search 100 bp 5'
Search 100 bp 3'