Canonical Allele Identifier: CA10629516
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365741
ClinVar RCV Id: RCV000323531 RCV002270229 RCV001712165 RCV002270230
dbSNP Id: rs13946
gnomAD v2: 9-137734232-C-T
gnomAD v3: 9-134842386-C-T
gnomAD v4: 9-134842386-C-T
MyVariant Identifiers: chr9:g.137734232C>T (hg19) chr9:g.134842386C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842386C>T , CM000671.2:g.134842386C>T GRCh38
NC_000009.11:g.137734232C>T , CM000671.1:g.137734232C>T GRCh37
NC_000009.10:g.136874053C>T NCBI36
NG_008030.1:g.205581C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*83C>T ENSP00000360885.4:n.*83C>T
ENST00000371817.8:c.*83C>T MANE Select ENSP00000360882.3:n.*83C>T
ENST00000371817.7:c.*83C>T ENSP00000360882.3:n.*83C>T
ENST00000618395.4:c.*83C>T ENSP00000481360.1:n.*83C>T
NM_000093.4:c.*83C>T NP_000084.3:n.*83C>T
NM_001278074.1:c.*83C>T NP_001265003.1:n.*83C>T
NR_103451.2:n.71-22177G>A
NM_000093.5:c.*83C>T MANE Select NP_000084.3:n.*83C>T
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