Canonical Allele Identifier: CA471745800
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124221453G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461937G>C , CM000672.2:g.122461937G>C GRCh38
NC_000010.10:g.124221453G>C , CM000672.1:g.124221453G>C GRCh37
NC_000010.9:g.124211443G>C NCBI36
NG_011554.1:g.5413G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.285G>C MANE Select ENSP00000357980.3:p.Val95=
ENST00000648167.1:c.154+3228G>C ENSP00000498033.1:n.154+3228G>C
ENST00000368984.7:c.285G>C ENSP00000357980.3:p.Val95=
NM_002775.4:c.285G>C NP_002766.1:p.Val95=
NM_002775.5:c.285G>C MANE Select NP_002766.1:p.Val95=