Canonical Allele Identifier: CA446551901
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs554888573
gnomAD v2: 5-135392483-G-A
gnomAD v4: 5-136056794-G-A
MyVariant Identifiers: chr5:g.135392483G>A (hg19) chr5:g.136056794G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056794G>A , CM000667.2:g.136056794G>A GRCh38
NC_000005.9:g.135392483G>A , CM000667.1:g.135392483G>A GRCh37
NC_000005.8:g.135420382G>A NCBI36
NG_012646.1:g.32900G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1677G>A MANE Select ENSP00000416330.2:p.Leu559=
ENST00000442011.6:c.1677G>A ENSP00000416330.2:p.Leu559=
ENST00000506699.5:n.2194G>A
ENST00000507018.5:c.1655G>A
ENST00000509485.5:c.674G>A
ENST00000514242.5:n.448G>A
ENST00000514554.5:c.829G>A
NM_000358.2:c.1677G>A NP_000349.1:p.Leu559=
NM_000358.3:c.1677G>A MANE Select NP_000349.1:p.Leu559=
Search 100 bp 5'
Search 100 bp 3'