Canonical Allele Identifier: CA5319491
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255067
ClinVar RCV Id: RCV000242329 RCV002270107 RCV001651099 RCV002270106
dbSNP Id: rs13301426
ExAC: 9:137677921 C / T
gnomAD v2: 9-137677921-C-T
gnomAD v3: 9-134786075-C-T
gnomAD v4: 9-134786075-C-T
MyVariant Identifiers: chr9:g.137677921C>T (hg19) chr9:g.134786075C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134786075C>T , CM000671.2:g.134786075C>T GRCh38
NC_000009.11:g.137677921C>T , CM000671.1:g.137677921C>T GRCh37
NC_000009.10:g.136817742C>T NCBI36
NG_008030.1:g.149270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.2646+27C>T ENSP00000360885.4:n.2646+27C>T
ENST00000371817.8:c.2646+27C>T MANE Select ENSP00000360882.3:n.2646+27C>T
ENST00000371817.7:c.2646+27C>T ENSP00000360882.3:n.2646+27C>T
ENST00000618395.4:c.2646+27C>T ENSP00000481360.1:n.2646+27C>T
NM_000093.4:c.2646+27C>T NP_000084.3:n.2646+27C>T
NM_001278074.1:c.2646+27C>T NP_001265003.1:n.2646+27C>T
XR_929712.1:n.3048+27C>T
XR_929713.1:n.3048+27C>T
XM_017014266.2:c.2646+27C>T XP_016869755.1:n.2646+27C>T
XR_001746183.1:n.3044+27C>T
NM_000093.5:c.2646+27C>T MANE Select NP_000084.3:n.2646+27C>T
Search 100 bp 5'
Search 100 bp 3'