Canonical Allele Identifier: CA5320705
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381489
ClinVar RCV Id: RCV002521585
dbSNP Id: rs201082330
ExAC: 9:137727064 G / A
gnomAD v2: 9-137727064-G-A
gnomAD v3: 9-134835218-G-A
gnomAD v4: 9-134835218-G-A
MyVariant Identifiers: chr9:g.137727064G>A (hg19) chr9:g.134835218G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835218G>A , CM000671.2:g.134835218G>A GRCh38
NC_000009.11:g.137727064G>A , CM000671.1:g.137727064G>A GRCh37
NC_000009.10:g.136866885G>A NCBI36
NG_008030.1:g.198413G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5370+14G>A ENSP00000360885.4:n.5370+14G>A
ENST00000371817.8:c.5370+14G>A MANE Select ENSP00000360882.3:n.5370+14G>A
ENST00000371817.7:c.5370+14G>A ENSP00000360882.3:n.5370+14G>A
ENST00000618395.4:c.5370+14G>A ENSP00000481360.1:n.5370+14G>A
NM_000093.4:c.5370+14G>A NP_000084.3:n.5370+14G>A
NM_001278074.1:c.5370+14G>A NP_001265003.1:n.5370+14G>A
NR_103451.2:n.71-15009C>T
NM_000093.5:c.5370+14G>A MANE Select NP_000084.3:n.5370+14G>A
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