Canonical Allele Identifier: CA596378871

Gene: HTRA1

Linked Data

• dbSNP Id: rs1172614757
• gnomAD v2: 10-124220519-A-C
• gnomAD v3: 10-122461003-A-C
• gnomAD v4: 10-122461003-A-C
• MyVariant Identifiers: chr10:g.124220519A>C (hg19) ; chr10:g.122461003A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461003A>C , CM000672.2:g.122461003A>C	GRCh38
NC_000010.10:g.124220519A>C , CM000672.1:g.124220519A>C	GRCh37
NC_000010.9:g.124210509A>C	NCBI36
NG_011554.1:g.4479A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2294A>C	ENSP00000498033.1:n.154+2294A>C
XR_946382.1:n.356T>G
XR_946383.1:n.356T>G
XR_946384.1:n.356T>G
XR_946385.1:n.356T>G
XR_946382.2:n.384T>G
XR_946383.2:n.384T>G
XR_946384.2:n.360T>G
XR_946385.2:n.384T>G