Canonical Allele Identifier: CA596378886

Gene: HTRA1

Linked Data

• dbSNP Id: rs1361185364
• gnomAD v2: 10-124220740-G-C
• gnomAD v3: 10-122461224-G-C
• gnomAD v4: 10-122461224-G-C
• MyVariant Identifiers: chr10:g.124220740G>C (hg19) ; chr10:g.122461224G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122461224G>C , CM000672.2:g.122461224G>C	GRCh38
NC_000010.10:g.124220740G>C , CM000672.1:g.124220740G>C	GRCh37
NC_000010.9:g.124210730G>C	NCBI36
NG_011554.1:g.4700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648167.1:c.154+2515G>C	ENSP00000498033.1:n.154+2515G>C
XR_946382.1:n.135C>G
XR_946383.1:n.135C>G
XR_946384.1:n.135C>G
XR_946385.1:n.135C>G
XR_946382.2:n.163C>G
XR_946383.2:n.163C>G
XR_946384.2:n.139C>G
XR_946385.2:n.163C>G