Canonical Allele Identifier: CA1883396655
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842259C= , CM000671.2:g.134842259C= GRCh38
NC_000009.11:g.137734105C= , CM000671.1:g.137734105C= GRCh37
NC_000009.10:g.136873926C= NCBI36
NG_008030.1:g.205454C=

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5473C= ENSP00000360885.4:p.Gln1825=
ENST00000371817.8:c.5473C= MANE Select ENSP00000360882.3:p.Gln1825=
ENST00000371817.7:c.5473C= ENSP00000360882.3:p.Gln1825=
ENST00000618395.4:c.5473C= ENSP00000481360.1:p.Gln1825=
NM_000093.4:c.5473C= NP_000084.3:p.Gln1825=
NM_001278074.1:c.5473C= NP_001265003.1:p.Gln1825=
NR_103451.2:n.71-22050G=
NM_000093.5:c.5473C= MANE Select NP_000084.3:p.Gln1825=