Canonical Allele Identifier: CA361032693
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382108T>A (hg19) chr5:g.136046419T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046419T>A , CM000667.2:g.136046419T>A GRCh38
NC_000005.9:g.135382108T>A , CM000667.1:g.135382108T>A GRCh37
NC_000005.8:g.135410007T>A NCBI36
NG_012646.1:g.22525T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.383T>A MANE Select ENSP00000416330.2:p.Leu128Gln
ENST00000442011.6:c.383T>A ENSP00000416330.2:p.Leu128Gln
ENST00000504185.5:n.540T>A
ENST00000506699.5:n.448T>A
ENST00000507018.5:c.300T>A
ENST00000515433.1:n.675T>A
NM_000358.2:c.383T>A NP_000349.1:p.Leu128Gln
NM_000358.3:c.383T>A MANE Select NP_000349.1:p.Leu128Gln
Search 100 bp 5'
Search 100 bp 3'