Canonical Allele Identifier: CA361039166
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391369A>C (hg19) chr5:g.136055680A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055680A>C , CM000667.2:g.136055680A>C GRCh38
NC_000005.9:g.135391369A>C , CM000667.1:g.135391369A>C GRCh37
NC_000005.8:g.135419268A>C NCBI36
NG_012646.1:g.31786A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411A>C MANE Select ENSP00000416330.2:p.Ser471Arg
ENST00000442011.6:c.1411A>C ENSP00000416330.2:p.Ser471Arg
ENST00000506699.5:n.1928A>C
ENST00000507018.5:c.1389A>C
ENST00000509485.5:c.326A>C
ENST00000514242.5:n.182A>C
ENST00000514554.5:c.563A>C
NM_000358.2:c.1411A>C NP_000349.1:p.Ser471Arg
NM_000358.3:c.1411A>C MANE Select NP_000349.1:p.Ser471Arg
Search 100 bp 5'
Search 100 bp 3'