Canonical Allele Identifier: CA1883392991
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835068A= , CM000671.2:g.134835068A= GRCh38
NC_000009.11:g.137726914A= , CM000671.1:g.137726914A= GRCh37
NC_000009.10:g.136866735A= NCBI36
NG_008030.1:g.198263A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5234A= ENSP00000360885.4:p.His1745=
ENST00000371817.8:c.5234A= MANE Select ENSP00000360882.3:p.His1745=
ENST00000371817.7:c.5234A= ENSP00000360882.3:p.His1745=
ENST00000371820.3:c.492A=
ENST00000618395.4:c.5234A= ENSP00000481360.1:p.His1745=
NM_000093.4:c.5234A= NP_000084.3:p.His1745=
NM_001278074.1:c.5234A= NP_001265003.1:p.His1745=
NR_103451.2:n.71-14859T=
NM_000093.5:c.5234A= MANE Select NP_000084.3:p.His1745=