Canonical Allele Identifier: CA361039817

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135391466G>C (hg19) ; chr5:g.136055777G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055777G>C , CM000667.2:g.136055777G>C	GRCh38
NC_000005.9:g.135391466G>C , CM000667.1:g.135391466G>C	GRCh37
NC_000005.8:g.135419365G>C	NCBI36
NG_012646.1:g.31883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1508G>C MANE Select	ENSP00000416330.2:p.Gly503Ala
ENST00000442011.6:c.1508G>C	ENSP00000416330.2:p.Gly503Ala
ENST00000506699.5:n.2025G>C
ENST00000507018.5:c.1486G>C
ENST00000509485.5:c.423G>C
ENST00000514242.5:n.279G>C
ENST00000514554.5:c.660G>C
NM_000358.2:c.1508G>C	NP_000349.1:p.Gly503Ala
NM_000358.3:c.1508G>C MANE Select	NP_000349.1:p.Gly503Ala