Canonical Allele Identifier: CA5725804
Gene: HTRA1 HGNC NCBI

Linked Data

dbSNP Id: rs752737687
ExAC: 10:124221542 C / T
gnomAD v2: 10-124221542-C-T
gnomAD v4: 10-122462026-C-T
MyVariant Identifiers: chr10:g.124221542C>T (hg19) chr10:g.122462026C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.122462026C>T , CM000672.2:g.122462026C>T GRCh38
NC_000010.10:g.124221542C>T , CM000672.1:g.124221542C>T GRCh37
NC_000010.9:g.124211532C>T NCBI36
NG_011554.1:g.5502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368984.8:c.374C>T MANE Select ENSP00000357980.3:p.Thr125Ile
ENST00000648167.1:c.154+3317C>T ENSP00000498033.1:n.154+3317C>T
ENST00000368984.7:c.374C>T ENSP00000357980.3:p.Thr125Ile
NM_002775.4:c.374C>T NP_002766.1:p.Thr125Ile
NM_002775.5:c.374C>T MANE Select NP_002766.1:p.Thr125Ile
Search 100 bp 5'
Search 100 bp 3'