Canonical Allele Identifier: CA378606421
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs2097481688
MyVariant Identifiers: chr10:g.124221607G>C (hg19) chr10:g.122462091G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462091G>C , CM000672.2:g.122462091G>C GRCh38
NC_000010.10:g.124221607G>C , CM000672.1:g.124221607G>C GRCh37
NC_000010.9:g.124211597G>C NCBI36
NG_011554.1:g.5567G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.439G>C MANE Select ENSP00000357980.3:p.Val147Leu
ENST00000648167.1:c.154+3382G>C ENSP00000498033.1:n.154+3382G>C
ENST00000368984.7:c.439G>C ENSP00000357980.3:p.Val147Leu
NM_002775.4:c.439G>C NP_002766.1:p.Val147Leu
NM_002775.5:c.439G>C MANE Select NP_002766.1:p.Val147Leu
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