Canonical Allele Identifier: CA2641409517
Gene: TTR HGNC NCBI

Linked Data

gnomAD v4: 18-31595258-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31595258G>A , CM000680.2:g.31595258G>A GRCh38
NC_000018.9:g.29175221G>A , CM000680.1:g.29175221G>A GRCh37
NC_000018.8:g.27429219G>A NCBI36
NG_009490.1:g.8492G>A , LRG_416:g.8492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237014.8:c.336+3G>A MANE Select ENSP00000237014.4:n.336+3G>A
ENST00000610404.5:c.240+3G>A ENSP00000477599.2:n.240+3G>A
ENST00000649620.1:c.336+3G>A ENSP00000497927.1:n.336+3G>A
ENST00000237014.7:c.336+3G>A ENSP00000237014.3:n.336+3G>A
ENST00000541025.2:n.365G>A
ENST00000610404.4:c.339G>A ENSP00000477599.1:p.Val113=
ENST00000613781.1:c.336+3G>A ENSP00000479174.1:n.336+3G>A
NM_000371.3:c.336+3G>A , LRG_416t1:c.336+3G>A NP_000362.1:n.336+3G>A
NM_000371.4:c.336+3G>A MANE Select NP_000362.1:n.336+3G>A
Search 100 bp 5'
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