Canonical Allele Identifier: CA596378868

Gene: HTRA1

Linked Data

• dbSNP Id: rs1189093814
• gnomAD v2: 10-124220492-T-C
• gnomAD v3: 10-122460976-T-C
• gnomAD v4: 10-122460976-T-C
• MyVariant Identifiers: chr10:g.124220492T>C (hg19) ; chr10:g.122460976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122460976T>C , CM000672.2:g.122460976T>C	GRCh38
NC_000010.10:g.124220492T>C , CM000672.1:g.124220492T>C	GRCh37
NC_000010.9:g.124210482T>C	NCBI36
NG_011554.1:g.4452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648167.1:c.154+2267T>C	ENSP00000498033.1:n.154+2267T>C
XR_946382.1:n.383A>G
XR_946383.1:n.383A>G
XR_946384.1:n.383A>G
XR_946385.1:n.383A>G
XR_946382.2:n.411A>G
XR_946383.2:n.411A>G
XR_946384.2:n.387A>G
XR_946385.2:n.411A>G