Canonical Allele Identifier: CA378606301

Gene: HTRA1

Linked Data

• MyVariant Identifiers: chr10:g.124221548C>T (hg19) ; chr10:g.122462032C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122462032C>T , CM000672.2:g.122462032C>T	GRCh38
NC_000010.10:g.124221548C>T , CM000672.1:g.124221548C>T	GRCh37
NC_000010.9:g.124211538C>T	NCBI36
NG_011554.1:g.5508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368984.8:c.380C>T MANE Select	ENSP00000357980.3:p.Ala127Val
ENST00000648167.1:c.154+3323C>T	ENSP00000498033.1:n.154+3323C>T
ENST00000368984.7:c.380C>T	ENSP00000357980.3:p.Ala127Val
NM_002775.4:c.380C>T	NP_002766.1:p.Ala127Val
NM_002775.5:c.380C>T MANE Select	NP_002766.1:p.Ala127Val