Canonical Allele Identifier: CA10633187
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365769
ClinVar RCV Id: RCV000292278 RCV002278633
dbSNP Id: rs1134170
gnomAD v2: 9-137735274-A-T
gnomAD v3: 9-134843428-A-T
gnomAD v4: 9-134843428-A-T
MyVariant Identifiers: chr9:g.137735274A>T (hg19) chr9:g.134843428A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843428A>T , CM000671.2:g.134843428A>T GRCh38
NC_000009.11:g.137735274A>T , CM000671.1:g.137735274A>T GRCh37
NC_000009.10:g.136875095A>T NCBI36
NG_008030.1:g.206623A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1125A>T ENSP00000360885.4:n.*1125A>T
ENST00000371817.8:c.*1125A>T MANE Select ENSP00000360882.3:n.*1125A>T
ENST00000371817.7:c.*1125A>T ENSP00000360882.3:n.*1125A>T
ENST00000618395.4:c.*1125A>T ENSP00000481360.1:n.*1125A>T
NM_000093.4:c.*1125A>T NP_000084.3:n.*1125A>T
NM_001278074.1:c.*1125A>T NP_001265003.1:n.*1125A>T
NR_103451.2:n.71-23219T>A
NM_000093.5:c.*1125A>T MANE Select NP_000084.3:n.*1125A>T
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