Canonical Allele Identifier: CA361041808
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135392428C>A (hg19) chr5:g.136056739C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056739C>A , CM000667.2:g.136056739C>A GRCh38
NC_000005.9:g.135392428C>A , CM000667.1:g.135392428C>A GRCh37
NC_000005.8:g.135420327C>A NCBI36
NG_012646.1:g.32845C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1622C>A MANE Select ENSP00000416330.2:p.Ala541Asp
ENST00000442011.6:c.1622C>A ENSP00000416330.2:p.Ala541Asp
ENST00000506699.5:n.2139C>A
ENST00000507018.5:c.1600C>A
ENST00000509485.5:c.619C>A
ENST00000514242.5:n.393C>A
ENST00000514554.5:c.774C>A
NM_000358.2:c.1622C>A NP_000349.1:p.Ala541Asp
NM_000358.3:c.1622C>A MANE Select NP_000349.1:p.Ala541Asp
Search 100 bp 5'
Search 100 bp 3'