Canonical Allele Identifier: CA2692462584
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134843055-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843055C>T , CM000671.2:g.134843055C>T GRCh38
NC_000009.11:g.137734901C>T , CM000671.1:g.137734901C>T GRCh37
NC_000009.10:g.136874722C>T NCBI36
NG_008030.1:g.206250C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*752C>T ENSP00000360885.4:n.*752C>T
ENST00000371817.8:c.*752C>T MANE Select ENSP00000360882.3:n.*752C>T
ENST00000371817.7:c.*752C>T ENSP00000360882.3:n.*752C>T
ENST00000618395.4:c.*752C>T ENSP00000481360.1:n.*752C>T
NM_000093.4:c.*752C>T NP_000084.3:n.*752C>T
NM_001278074.1:c.*752C>T NP_001265003.1:n.*752C>T
NR_103451.2:n.71-22846G>A
NM_000093.5:c.*752C>T MANE Select NP_000084.3:n.*752C>T
Search 100 bp 5'
Search 100 bp 3'