Canonical Allele Identifier: CA214414684

Gene: HTRA1

Linked Data

• dbSNP Id: rs527785521
• gnomAD v2: 10-124220650-C-T
• gnomAD v3: 10-122461134-C-T
• gnomAD v4: 10-122461134-C-T
• MyVariant Identifiers: chr10:g.124220650C>T (hg19) ; chr10:g.122461134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461134C>T , CM000672.2:g.122461134C>T	GRCh38
NC_000010.10:g.124220650C>T , CM000672.1:g.124220650C>T	GRCh37
NC_000010.9:g.124210640C>T	NCBI36
NG_011554.1:g.4610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2425C>T	ENSP00000498033.1:n.154+2425C>T
XR_946382.1:n.225G>A
XR_946383.1:n.225G>A
XR_946384.1:n.225G>A
XR_946385.1:n.225G>A
XR_946382.2:n.253G>A
XR_946383.2:n.253G>A
XR_946384.2:n.229G>A
XR_946385.2:n.253G>A