Canonical Allele Identifier: CA1883396796
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842362G= , CM000671.2:g.134842362G= GRCh38
NC_000009.11:g.137734208G= , CM000671.1:g.137734208G= GRCh37
NC_000009.10:g.136874029G= NCBI36
NG_008030.1:g.205557G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*59G= ENSP00000360885.4:n.*59G=
ENST00000371817.8:c.*59G= MANE Select ENSP00000360882.3:n.*59G=
ENST00000371817.7:c.*59G= ENSP00000360882.3:n.*59G=
ENST00000618395.4:c.*59G= ENSP00000481360.1:n.*59G=
NM_000093.4:c.*59G= NP_000084.3:n.*59G=
NM_001278074.1:c.*59G= NP_001265003.1:n.*59G=
NR_103451.2:n.71-22153C=
NM_000093.5:c.*59G= MANE Select NP_000084.3:n.*59G=