Canonical Allele Identifier: CA5320707
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2150591
ClinVar RCV Id: RCV003067647
dbSNP Id: rs756422575
ExAC: 9:137727067 G / A
gnomAD v2: 9-137727067-G-A
gnomAD v3: 9-134835221-G-A
gnomAD v4: 9-134835221-G-A
MyVariant Identifiers: chr9:g.137727067G>A (hg19) chr9:g.134835221G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835221G>A , CM000671.2:g.134835221G>A GRCh38
NC_000009.11:g.137727067G>A , CM000671.1:g.137727067G>A GRCh37
NC_000009.10:g.136866888G>A NCBI36
NG_008030.1:g.198416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5370+17G>A ENSP00000360885.4:n.5370+17G>A
ENST00000371817.8:c.5370+17G>A MANE Select ENSP00000360882.3:n.5370+17G>A
ENST00000371817.7:c.5370+17G>A ENSP00000360882.3:n.5370+17G>A
ENST00000618395.4:c.5370+17G>A ENSP00000481360.1:n.5370+17G>A
NM_000093.4:c.5370+17G>A NP_000084.3:n.5370+17G>A
NM_001278074.1:c.5370+17G>A NP_001265003.1:n.5370+17G>A
NR_103451.2:n.71-15012C>T
NM_000093.5:c.5370+17G>A MANE Select NP_000084.3:n.5370+17G>A
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