Canonical Allele Identifier: CA471666923
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124266320G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122506804G>C , CM000672.2:g.122506804G>C GRCh38
NC_000010.10:g.124266320G>C , CM000672.1:g.124266320G>C GRCh37
NC_000010.9:g.124256310G>C NCBI36
NG_011554.1:g.50280G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.891G>C MANE Select ENSP00000357980.3:p.Val297=
ENST00000648167.1:c.573G>C ENSP00000498033.1:p.Val191=
ENST00000368984.7:c.891G>C ENSP00000357980.3:p.Val297=
ENST00000420892.1:c.114G>C ENSP00000412676.1:p.Val38=
NM_002775.4:c.891G>C NP_002766.1:p.Val297=
NM_002775.5:c.891G>C MANE Select NP_002766.1:p.Val297=