Canonical Allele Identifier: CA446551082
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382178G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046489G>A , CM000667.2:g.136046489G>A GRCh38
NC_000005.9:g.135382178G>A , CM000667.1:g.135382178G>A GRCh37
NC_000005.8:g.135410077G>A NCBI36
NG_012646.1:g.22595G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.453G>A MANE Select ENSP00000416330.2:p.Leu151=
ENST00000442011.6:c.453G>A ENSP00000416330.2:p.Leu151=
ENST00000506699.5:n.518G>A
ENST00000507018.5:c.370G>A
ENST00000515433.1:n.745G>A
NM_000358.2:c.453G>A NP_000349.1:p.Leu151=
NM_000358.3:c.453G>A MANE Select NP_000349.1:p.Leu151=