Canonical Allele Identifier: CA471745370
Gene: HTRA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr10:g.124221216G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122461700G>T , CM000672.2:g.122461700G>T GRCh38
NC_000010.10:g.124221216G>T , CM000672.1:g.124221216G>T GRCh37
NC_000010.9:g.124211206G>T NCBI36
NG_011554.1:g.5176G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.48G>T MANE Select ENSP00000357980.3:p.Leu16=
ENST00000648167.1:c.154+2991G>T ENSP00000498033.1:n.154+2991G>T
ENST00000368984.7:c.48G>T ENSP00000357980.3:p.Leu16=
NM_002775.4:c.48G>T NP_002766.1:p.Leu16=
NM_002775.5:c.48G>T MANE Select NP_002766.1:p.Leu16=