Canonical Allele Identifier: CA378606010
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124221417C>G (hg19) chr10:g.122461901C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461901C>G , CM000672.2:g.122461901C>G GRCh38
NC_000010.10:g.124221417C>G , CM000672.1:g.124221417C>G GRCh37
NC_000010.9:g.124211407C>G NCBI36
NG_011554.1:g.5377C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.249C>G MANE Select ENSP00000357980.3:p.Cys83Trp
ENST00000648167.1:c.154+3192C>G ENSP00000498033.1:n.154+3192C>G
ENST00000368984.7:c.249C>G ENSP00000357980.3:p.Cys83Trp
NM_002775.4:c.249C>G NP_002766.1:p.Cys83Trp
NM_002775.5:c.249C>G MANE Select NP_002766.1:p.Cys83Trp
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