Canonical Allele Identifier: CA591117547
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1244886921
gnomAD v2: 9-137734871-C-G
gnomAD v3: 9-134843025-C-G
gnomAD v4: 9-134843025-C-G
MyVariant Identifiers: chr9:g.137734871C>G (hg19) chr9:g.134843025C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843025C>G , CM000671.2:g.134843025C>G GRCh38
NC_000009.11:g.137734871C>G , CM000671.1:g.137734871C>G GRCh37
NC_000009.10:g.136874692C>G NCBI36
NG_008030.1:g.206220C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*722C>G ENSP00000360885.4:n.*722C>G
ENST00000371817.8:c.*722C>G MANE Select ENSP00000360882.3:n.*722C>G
ENST00000371817.7:c.*722C>G ENSP00000360882.3:n.*722C>G
ENST00000618395.4:c.*722C>G ENSP00000481360.1:n.*722C>G
NM_000093.4:c.*722C>G NP_000084.3:n.*722C>G
NM_001278074.1:c.*722C>G NP_001265003.1:n.*722C>G
NR_103451.2:n.71-22816G>C
NM_000093.5:c.*722C>G MANE Select NP_000084.3:n.*722C>G
Search 100 bp 5'
Search 100 bp 3'