Canonical Allele Identifier: CA361039133
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135391367A>T (hg19) chr5:g.136055678A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055678A>T , CM000667.2:g.136055678A>T GRCh38
NC_000005.9:g.135391367A>T , CM000667.1:g.135391367A>T GRCh37
NC_000005.8:g.135419266A>T NCBI36
NG_012646.1:g.31784A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-2A>T MANE Select ENSP00000416330.2:n.1411-2A>T
ENST00000442011.6:c.1411-2A>T ENSP00000416330.2:n.1411-2A>T
ENST00000506699.5:n.1928-2A>T
ENST00000507018.5:c.1389-2A>T
ENST00000509485.5:c.326-2A>T
ENST00000514242.5:n.180A>T
ENST00000514554.5:c.563-2A>T
NM_000358.2:c.1411-2A>T NP_000349.1:n.1411-2A>T
NM_000358.3:c.1411-2A>T MANE Select NP_000349.1:n.1411-2A>T
Search 100 bp 5'
Search 100 bp 3'