Canonical Allele Identifier: CA596378863

Gene: HTRA1

Linked Data

• dbSNP Id: rs1251447418
• gnomAD v2: 10-124220454-A-C
• gnomAD v3: 10-122460938-A-C
• gnomAD v4: 10-122460938-A-C
• MyVariant Identifiers: chr10:g.124220454A>C (hg19) ; chr10:g.122460938A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122460938A>C , CM000672.2:g.122460938A>C	GRCh38
NC_000010.10:g.124220454A>C , CM000672.1:g.124220454A>C	GRCh37
NC_000010.9:g.124210444A>C	NCBI36
NG_011554.1:g.4414A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2229A>C	ENSP00000498033.1:n.154+2229A>C
XR_946382.1:n.410+11T>G
XR_946383.1:n.410+11T>G
XR_946384.1:n.410+11T>G
XR_946385.1:n.410+11T>G
XR_946382.2:n.438+11T>G
XR_946383.2:n.438+11T>G
XR_946384.2:n.414+11T>G
XR_946385.2:n.438+11T>G