Canonical Allele Identifier: CA361032730

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382125G>C (hg19) ; chr5:g.136046436G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046436G>C , CM000667.2:g.136046436G>C	GRCh38
NC_000005.9:g.135382125G>C , CM000667.1:g.135382125G>C	GRCh37
NC_000005.8:g.135410024G>C	NCBI36
NG_012646.1:g.22542G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.400G>C MANE Select	ENSP00000416330.2:p.Gly134Arg
ENST00000442011.6:c.400G>C	ENSP00000416330.2:p.Gly134Arg
ENST00000504185.5:n.557G>C
ENST00000506699.5:n.465G>C
ENST00000507018.5:c.317G>C
ENST00000515433.1:n.692G>C
NM_000358.2:c.400G>C	NP_000349.1:p.Gly134Arg
NM_000358.3:c.400G>C MANE Select	NP_000349.1:p.Gly134Arg