Canonical Allele Identifier: CA361032682
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382104A>G (hg19) chr5:g.136046415A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046415A>G , CM000667.2:g.136046415A>G GRCh38
NC_000005.9:g.135382104A>G , CM000667.1:g.135382104A>G GRCh37
NC_000005.8:g.135410003A>G NCBI36
NG_012646.1:g.22521A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.379A>G MANE Select ENSP00000416330.2:p.Lys127Glu
ENST00000442011.6:c.379A>G ENSP00000416330.2:p.Lys127Glu
ENST00000504185.5:n.536A>G
ENST00000506699.5:n.444A>G
ENST00000507018.5:c.296A>G
ENST00000515433.1:n.671A>G
NM_000358.2:c.379A>G NP_000349.1:p.Lys127Glu
NM_000358.3:c.379A>G MANE Select NP_000349.1:p.Lys127Glu
Search 100 bp 5'
Search 100 bp 3'