Canonical Allele Identifier: CA030886
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136056754C>A
GRCh37 chr5:g.135392443C>A
Revel Score:
ENST00000442011 (MANE Select) 0.981
ENST00000398813 0.981
ENST00000305126 0.981
ENST00000514554 0.967
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056754C>A , CM000667.2:g.136056754C>A GRCh38
NC_000005.9:g.135392443C>A , CM000667.1:g.135392443C>A GRCh37
NC_000005.8:g.135420342C>A NCBI36
NG_012646.1:g.32860C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1637C>A MANE Select ENSP00000416330.2:p.Ala546Asp
ENST00000442011.6:c.1637C>A ENSP00000416330.2:p.Ala546Asp
ENST00000506699.5:n.2154C>A
ENST00000507018.5:c.1615C>A
ENST00000509485.5:c.634C>A
ENST00000514242.5:n.408C>A
ENST00000514554.5:c.789C>A
NM_000358.2:c.1637C>A NP_000349.1:p.Ala546Asp
NM_000358.3:c.1637C>A MANE Select NP_000349.1:p.Ala546Asp
Search 100 bp 5'
Search 100 bp 3'