Canonical Allele Identifier: CA361032517

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382048A>G (hg19) ; chr5:g.136046359A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046359A>G , CM000667.2:g.136046359A>G	GRCh38
NC_000005.9:g.135382048A>G , CM000667.1:g.135382048A>G	GRCh37
NC_000005.8:g.135409947A>G	NCBI36
NG_012646.1:g.22465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.323A>G MANE Select	ENSP00000416330.2:p.Glu108Gly
ENST00000442011.6:c.323A>G	ENSP00000416330.2:p.Glu108Gly
ENST00000504185.5:n.480A>G
ENST00000506699.5:n.388A>G
ENST00000507018.5:c.240A>G
ENST00000515433.1:n.615A>G
NM_000358.2:c.323A>G	NP_000349.1:p.Glu108Gly
NM_000358.3:c.323A>G MANE Select	NP_000349.1:p.Glu108Gly