Canonical Allele Identifier: CA5320673
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459710
ClinVar RCV Id: RCV001764546 RCV002231695
dbSNP Id: rs370607849
ExAC: 9:137726914 A / G
gnomAD v2: 9-137726914-A-G
gnomAD v4: 9-134835068-A-G
MyVariant Identifiers: chr9:g.137726914A>G (hg19) chr9:g.134835068A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835068A>G , CM000671.2:g.134835068A>G GRCh38
NC_000009.11:g.137726914A>G , CM000671.1:g.137726914A>G GRCh37
NC_000009.10:g.136866735A>G NCBI36
NG_008030.1:g.198263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5234A>G ENSP00000360885.4:p.His1745Arg
ENST00000371817.8:c.5234A>G MANE Select ENSP00000360882.3:p.His1745Arg
ENST00000371817.7:c.5234A>G ENSP00000360882.3:p.His1745Arg
ENST00000371820.3:c.492A>G
ENST00000618395.4:c.5234A>G ENSP00000481360.1:p.His1745Arg
NM_000093.4:c.5234A>G NP_000084.3:p.His1745Arg
NM_001278074.1:c.5234A>G NP_001265003.1:p.His1745Arg
NR_103451.2:n.71-14859T>C
NM_000093.5:c.5234A>G MANE Select NP_000084.3:p.His1745Arg
Search 100 bp 5'
Search 100 bp 3'