Canonical Allele Identifier: CA378586503
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124268206T>C (hg19) chr10:g.122508690T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508690T>C , CM000672.2:g.122508690T>C GRCh38
NC_000010.10:g.124268206T>C , CM000672.1:g.124268206T>C GRCh37
NC_000010.9:g.124258196T>C NCBI36
NG_011554.1:g.52166T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1040T>C MANE Select ENSP00000357980.3:p.Val347Ala
ENST00000648167.1:c.722T>C ENSP00000498033.1:p.Val241Ala
ENST00000368984.7:c.1040T>C ENSP00000357980.3:p.Val347Ala
ENST00000420892.1:c.263T>C ENSP00000412676.1:p.Val88Ala
NM_002775.4:c.1040T>C NP_002766.1:p.Val347Ala
NM_002775.5:c.1040T>C MANE Select NP_002766.1:p.Val347Ala
Search 100 bp 5'
Search 100 bp 3'