Canonical Allele Identifier: CA361032429

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382024C>T (hg19) ; chr5:g.136046335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046335C>T , CM000667.2:g.136046335C>T	GRCh38
NC_000005.9:g.135382024C>T , CM000667.1:g.135382024C>T	GRCh37
NC_000005.8:g.135409923C>T	NCBI36
NG_012646.1:g.22441C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.299C>T MANE Select	ENSP00000416330.2:p.Ala100Val
ENST00000442011.6:c.299C>T	ENSP00000416330.2:p.Ala100Val
ENST00000504185.5:n.456C>T
ENST00000506699.5:n.364C>T
ENST00000507018.5:c.216C>T
ENST00000515433.1:n.591C>T
NM_000358.2:c.299C>T	NP_000349.1:p.Ala100Val
NM_000358.3:c.299C>T MANE Select	NP_000349.1:p.Ala100Val