Canonical Allele Identifier: CA5318685
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 638919
ClinVar RCV Id: RCV001811482 RCV002234180
dbSNP Id: rs763456705
ExAC: 9:137623417 G / A
gnomAD v2: 9-137623417-G-A
gnomAD v3: 9-134731571-G-A
gnomAD v4: 9-134731571-G-A
COSMIC: COSM3655441
MyVariant Identifiers: chr9:g.137623417G>A (hg19) chr9:g.134731571G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731571G>A , CM000671.2:g.134731571G>A GRCh38
NC_000009.11:g.137623417G>A , CM000671.1:g.137623417G>A GRCh37
NC_000009.10:g.136763238G>A NCBI36
NG_008030.1:g.94766G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.1240G>A ENSP00000360885.4:p.Glu414Lys
ENST00000371817.8:c.1240G>A MANE Select ENSP00000360882.3:p.Glu414Lys
ENST00000371817.7:c.1240G>A ENSP00000360882.3:p.Glu414Lys
ENST00000618395.4:c.1240G>A ENSP00000481360.1:p.Glu414Lys
NM_000093.4:c.1240G>A NP_000084.3:p.Glu414Lys
NM_001278074.1:c.1240G>A NP_001265003.1:p.Glu414Lys
XR_929712.1:n.1642G>A
XR_929713.1:n.1642G>A
XM_017014266.2:c.1240G>A XP_016869755.1:p.Glu414Lys
XR_001746183.1:n.1638G>A
NM_000093.5:c.1240G>A MANE Select NP_000084.3:p.Glu414Lys
Search 100 bp 5'
Search 100 bp 3'