Canonical Allele Identifier: CA201086360
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1103966
ClinVar RCV Id: RCV002236137
dbSNP Id: rs1033262221
gnomAD v2: 9-137642686-A-C
gnomAD v4: 9-134750840-A-C
MyVariant Identifiers: chr9:g.137642686A>C (hg19) chr9:g.134750840A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750840A>C , CM000671.2:g.134750840A>C GRCh38
NC_000009.11:g.137642686A>C , CM000671.1:g.137642686A>C GRCh37
NC_000009.10:g.136782507A>C NCBI36
NG_008030.1:g.114035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1620A>C ENSP00000360885.4:p.Ser540=
ENST00000371817.8:c.1620A>C MANE Select ENSP00000360882.3:p.Ser540=
ENST00000371817.7:c.1620A>C ENSP00000360882.3:p.Ser540=
ENST00000618395.4:c.1620A>C ENSP00000481360.1:p.Ser540=
NM_000093.4:c.1620A>C NP_000084.3:p.Ser540=
NM_001278074.1:c.1620A>C NP_001265003.1:p.Ser540=
XR_929712.1:n.2022A>C
XR_929713.1:n.2022A>C
XM_017014266.2:c.1620A>C XP_016869755.1:p.Ser540=
XR_001746183.1:n.2018A>C
NM_000093.5:c.1620A>C MANE Select NP_000084.3:p.Ser540=
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Search 100 bp 3'