Canonical Allele Identifier: CA1883396772
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842342C= , CM000671.2:g.134842342C= GRCh38
NC_000009.11:g.137734188C= , CM000671.1:g.137734188C= GRCh37
NC_000009.10:g.136874009C= NCBI36
NG_008030.1:g.205537C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*39C= ENSP00000360885.4:n.*39C=
ENST00000371817.8:c.*39C= MANE Select ENSP00000360882.3:n.*39C=
ENST00000371817.7:c.*39C= ENSP00000360882.3:n.*39C=
ENST00000618395.4:c.*39C= ENSP00000481360.1:n.*39C=
NM_000093.4:c.*39C= NP_000084.3:n.*39C=
NM_001278074.1:c.*39C= NP_001265003.1:n.*39C=
NR_103451.2:n.71-22133G=
NM_000093.5:c.*39C= MANE Select NP_000084.3:n.*39C=