Canonical Allele Identifier: CA446550981
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382028A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046339A>G , CM000667.2:g.136046339A>G GRCh38
NC_000005.9:g.135382028A>G , CM000667.1:g.135382028A>G GRCh37
NC_000005.8:g.135409927A>G NCBI36
NG_012646.1:g.22445A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.303A>G MANE Select ENSP00000416330.2:p.Leu101=
ENST00000442011.6:c.303A>G ENSP00000416330.2:p.Leu101=
ENST00000504185.5:n.460A>G
ENST00000506699.5:n.368A>G
ENST00000507018.5:c.220A>G
ENST00000515433.1:n.595A>G
NM_000358.2:c.303A>G NP_000349.1:p.Leu101=
NM_000358.3:c.303A>G MANE Select NP_000349.1:p.Leu101=