Canonical Allele Identifier: CA361032427
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135382024C>G (hg19) chr5:g.136046335C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299C>G MANE Select ENSP00000416330.2:p.Ala100Gly
ENST00000442011.6:c.299C>G ENSP00000416330.2:p.Ala100Gly
ENST00000504185.5:n.456C>G
ENST00000506699.5:n.364C>G
ENST00000507018.5:c.216C>G
ENST00000515433.1:n.591C>G
NM_000358.2:c.299C>G NP_000349.1:p.Ala100Gly
NM_000358.3:c.299C>G MANE Select NP_000349.1:p.Ala100Gly
Search 100 bp 5'
Search 100 bp 3'