Canonical Allele Identifier: CA378586448
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124268195C>G (hg19) chr10:g.122508679C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122508679C>G , CM000672.2:g.122508679C>G GRCh38
NC_000010.10:g.124268195C>G , CM000672.1:g.124268195C>G GRCh37
NC_000010.9:g.124258185C>G NCBI36
NG_011554.1:g.52155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.1029C>G MANE Select ENSP00000357980.3:p.Asn343Lys
ENST00000648167.1:c.711C>G ENSP00000498033.1:p.Asn237Lys
ENST00000368984.7:c.1029C>G ENSP00000357980.3:p.Asn343Lys
ENST00000420892.1:c.252C>G ENSP00000412676.1:p.Asn84Lys
NM_002775.4:c.1029C>G NP_002766.1:p.Asn343Lys
NM_002775.5:c.1029C>G MANE Select NP_002766.1:p.Asn343Lys
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