Canonical Allele Identifier: CA214389485
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs553948694
gnomAD v3: 10-122471972-T-G
gnomAD v4: 10-122471972-T-G
MyVariant Identifiers: chr10:g.124231488T>G (hg19) chr10:g.122471972T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122471972T>G , CM000672.2:g.122471972T>G GRCh38
NC_000010.10:g.124231488T>G , CM000672.1:g.124231488T>G GRCh37
NC_000010.9:g.124221478T>G NCBI36
NG_011554.1:g.15448T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000368984.8:c.472+9848T>G MANE Select ENSP00000357980.3:n.472+9848T>G
ENST00000648167.1:c.154+13263T>G ENSP00000498033.1:n.154+13263T>G
ENST00000368984.7:c.472+9848T>G ENSP00000357980.3:n.472+9848T>G
NM_002775.4:c.472+9848T>G NP_002766.1:n.472+9848T>G
NM_002775.5:c.472+9848T>G MANE Select NP_002766.1:n.472+9848T>G
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