Canonical Allele Identifier: CA446551859
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751640472
MyVariant Identifiers: chr5:g.135392429T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056740T>C , CM000667.2:g.136056740T>C GRCh38
NC_000005.9:g.135392429T>C , CM000667.1:g.135392429T>C GRCh37
NC_000005.8:g.135420328T>C NCBI36
NG_012646.1:g.32846T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1623T>C MANE Select ENSP00000416330.2:p.Ala541=
ENST00000442011.6:c.1623T>C ENSP00000416330.2:p.Ala541=
ENST00000506699.5:n.2140T>C
ENST00000507018.5:c.1601T>C
ENST00000509485.5:c.620T>C
ENST00000514242.5:n.394T>C
ENST00000514554.5:c.775T>C
NM_000358.2:c.1623T>C NP_000349.1:p.Ala541=
NM_000358.3:c.1623T>C MANE Select NP_000349.1:p.Ala541=
Search 100 bp 5'
Search 100 bp 3'