Canonical Allele Identifier: CA361032816

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382159A>T (hg19) ; chr5:g.136046470A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046470A>T , CM000667.2:g.136046470A>T	GRCh38
NC_000005.9:g.135382159A>T , CM000667.1:g.135382159A>T	GRCh37
NC_000005.8:g.135410058A>T	NCBI36
NG_012646.1:g.22576A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.434A>T MANE Select	ENSP00000416330.2:p.Asn145Ile
ENST00000442011.6:c.434A>T	ENSP00000416330.2:p.Asn145Ile
ENST00000506699.5:n.499A>T
ENST00000507018.5:c.351A>T
ENST00000515433.1:n.726A>T
NM_000358.2:c.434A>T	NP_000349.1:p.Asn145Ile
NM_000358.3:c.434A>T MANE Select	NP_000349.1:p.Asn145Ile