Canonical Allele Identifier: CA361032498

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382045A>C (hg19) ; chr5:g.136046356A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046356A>C , CM000667.2:g.136046356A>C	GRCh38
NC_000005.9:g.135382045A>C , CM000667.1:g.135382045A>C	GRCh37
NC_000005.8:g.135409944A>C	NCBI36
NG_012646.1:g.22462A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.320A>C MANE Select	ENSP00000416330.2:p.Tyr107Ser
ENST00000442011.6:c.320A>C	ENSP00000416330.2:p.Tyr107Ser
ENST00000504185.5:n.477A>C
ENST00000506699.5:n.385A>C
ENST00000507018.5:c.237A>C
ENST00000515433.1:n.612A>C
NM_000358.2:c.320A>C	NP_000349.1:p.Tyr107Ser
NM_000358.3:c.320A>C MANE Select	NP_000349.1:p.Tyr107Ser