Canonical Allele Identifier: CA402156835
Gene: TTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31593001G>C , CM000680.2:g.31593001G>C GRCh38
NC_000018.9:g.29172964G>C , CM000680.1:g.29172964G>C GRCh37
NC_000018.8:g.27426962G>C NCBI36
NG_009490.1:g.6235G>C , LRG_416:g.6235G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237014.8:c.175G>C MANE Select ENSP00000237014.4:p.Asp59His
ENST00000610404.5:c.79G>C ENSP00000477599.2:p.Asp27His
ENST00000649620.1:c.175G>C ENSP00000497927.1:p.Asp59His
ENST00000237014.7:c.175G>C ENSP00000237014.3:p.Asp59His
ENST00000432547.7:n.201G>C
ENST00000541025.2:n.201G>C
ENST00000610404.4:c.175G>C ENSP00000477599.1:p.Asp59His
ENST00000613781.1:c.175G>C ENSP00000479174.1:p.Asp59His
NM_000371.3:c.175G>C , LRG_416t1:c.175G>C NP_000362.1:p.Asp59His
NM_000371.4:c.175G>C MANE Select NP_000362.1:p.Asp59His