Canonical Allele Identifier: CA361042115
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135392479T>A (hg19) chr5:g.136056790T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056790T>A , CM000667.2:g.136056790T>A GRCh38
NC_000005.9:g.135392479T>A , CM000667.1:g.135392479T>A GRCh37
NC_000005.8:g.135420378T>A NCBI36
NG_012646.1:g.32896T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1673T>A MANE Select ENSP00000416330.2:p.Leu558His
ENST00000442011.6:c.1673T>A ENSP00000416330.2:p.Leu558His
ENST00000506699.5:n.2190T>A
ENST00000507018.5:c.1651T>A
ENST00000509485.5:c.670T>A
ENST00000514242.5:n.444T>A
ENST00000514554.5:c.825T>A
NM_000358.2:c.1673T>A NP_000349.1:p.Leu558His
NM_000358.3:c.1673T>A MANE Select NP_000349.1:p.Leu558His
Search 100 bp 5'
Search 100 bp 3'