Canonical Allele Identifier: CA1883397787
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843534G= , CM000671.2:g.134843534G= GRCh38
NC_000009.11:g.137735380G= , CM000671.1:g.137735380G= GRCh37
NC_000009.10:g.136875201G= NCBI36
NG_008030.1:g.206729G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1231G= ENSP00000360885.4:n.*1231G=
ENST00000371817.8:c.*1231G= MANE Select ENSP00000360882.3:n.*1231G=
ENST00000371817.7:c.*1231G= ENSP00000360882.3:n.*1231G=
ENST00000618395.4:c.*1231G= ENSP00000481360.1:n.*1231G=
NM_000093.4:c.*1231G= NP_000084.3:n.*1231G=
NM_001278074.1:c.*1231G= NP_001265003.1:n.*1231G=
NR_103451.2:n.71-23325C=
NM_000093.5:c.*1231G= MANE Select NP_000084.3:n.*1231G=