Canonical Allele Identifier: CA361032684
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382105A>C (hg19) chr5:g.136046416A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046416A>C , CM000667.2:g.136046416A>C GRCh38
NC_000005.9:g.135382105A>C , CM000667.1:g.135382105A>C GRCh37
NC_000005.8:g.135410004A>C NCBI36
NG_012646.1:g.22522A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.380A>C MANE Select ENSP00000416330.2:p.Lys127Thr
ENST00000442011.6:c.380A>C ENSP00000416330.2:p.Lys127Thr
ENST00000504185.5:n.537A>C
ENST00000506699.5:n.445A>C
ENST00000507018.5:c.297A>C
ENST00000515433.1:n.672A>C
NM_000358.2:c.380A>C NP_000349.1:p.Lys127Thr
NM_000358.3:c.380A>C MANE Select NP_000349.1:p.Lys127Thr
Search 100 bp 5'
Search 100 bp 3'