Canonical Allele Identifier: CA1883393032
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835148G= , CM000671.2:g.134835148G= GRCh38
NC_000009.11:g.137726994G= , CM000671.1:g.137726994G= GRCh37
NC_000009.10:g.136866815G= NCBI36
NG_008030.1:g.198343G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5314G= ENSP00000360885.4:p.Glu1772=
ENST00000371817.8:c.5314G= MANE Select ENSP00000360882.3:p.Glu1772=
ENST00000371817.7:c.5314G= ENSP00000360882.3:p.Glu1772=
ENST00000371820.3:c.572G=
ENST00000618395.4:c.5314G= ENSP00000481360.1:p.Glu1772=
NM_000093.4:c.5314G= NP_000084.3:p.Glu1772=
NM_001278074.1:c.5314G= NP_001265003.1:p.Glu1772=
NR_103451.2:n.71-14939C=
NM_000093.5:c.5314G= MANE Select NP_000084.3:p.Glu1772=