Canonical Allele Identifier: CA361041818
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135392431C>G (hg19) chr5:g.136056742C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056742C>G , CM000667.2:g.136056742C>G GRCh38
NC_000005.9:g.135392431C>G , CM000667.1:g.135392431C>G GRCh37
NC_000005.8:g.135420330C>G NCBI36
NG_012646.1:g.32848C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1625C>G MANE Select ENSP00000416330.2:p.Pro542Arg
ENST00000442011.6:c.1625C>G ENSP00000416330.2:p.Pro542Arg
ENST00000506699.5:n.2142C>G
ENST00000507018.5:c.1603C>G
ENST00000509485.5:c.622C>G
ENST00000514242.5:n.396C>G
ENST00000514554.5:c.777C>G
NM_000358.2:c.1625C>G NP_000349.1:p.Pro542Arg
NM_000358.3:c.1625C>G MANE Select NP_000349.1:p.Pro542Arg
Search 100 bp 5'
Search 100 bp 3'