Canonical Allele Identifier: CA591363560
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1406823117
gnomAD v2: 9-137734179-A-G
gnomAD v4: 9-134842333-A-G
MyVariant Identifiers: chr9:g.137734179A>G (hg19) chr9:g.134842333A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842333A>G , CM000671.2:g.134842333A>G GRCh38
NC_000009.11:g.137734179A>G , CM000671.1:g.137734179A>G GRCh37
NC_000009.10:g.136874000A>G NCBI36
NG_008030.1:g.205528A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*30A>G ENSP00000360885.4:n.*30A>G
ENST00000371817.8:c.*30A>G MANE Select ENSP00000360882.3:n.*30A>G
ENST00000371817.7:c.*30A>G ENSP00000360882.3:n.*30A>G
ENST00000618395.4:c.*30A>G ENSP00000481360.1:n.*30A>G
NM_000093.4:c.*30A>G NP_000084.3:n.*30A>G
NM_001278074.1:c.*30A>G NP_001265003.1:n.*30A>G
NR_103451.2:n.71-22124T>C
NM_000093.5:c.*30A>G MANE Select NP_000084.3:n.*30A>G
Search 100 bp 5'
Search 100 bp 3'