Canonical Allele Identifier: CA324420
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212998
ClinVar RCV Id: RCV001705096 RCV002229065 RCV002315553
dbSNP Id: rs138068984
ExAC: 9:137726862 A / G
gnomAD v2: 9-137726862-A-G
gnomAD v3: 9-134835016-A-G
gnomAD v4: 9-134835016-A-G
MyVariant Identifiers: chr9:g.137726862A>G (hg19) chr9:g.134835016A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835016A>G , CM000671.2:g.134835016A>G GRCh38
NC_000009.11:g.137726862A>G , CM000671.1:g.137726862A>G GRCh37
NC_000009.10:g.136866683A>G NCBI36
NG_008030.1:g.198211A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5182A>G ENSP00000360885.4:p.Met1728Val
ENST00000371817.8:c.5182A>G MANE Select ENSP00000360882.3:p.Met1728Val
ENST00000371817.7:c.5182A>G ENSP00000360882.3:p.Met1728Val
ENST00000371820.3:c.440A>G
ENST00000618395.4:c.5182A>G ENSP00000481360.1:p.Met1728Val
NM_000093.4:c.5182A>G NP_000084.3:p.Met1728Val
NM_001278074.1:c.5182A>G NP_001265003.1:p.Met1728Val
NR_103451.2:n.71-14807T>C
XR_929712.1:n.5866A>G
XR_929713.1:n.5734A>G
NM_000093.5:c.5182A>G MANE Select NP_000084.3:p.Met1728Val
Search 100 bp 5'
Search 100 bp 3'