Canonical Allele Identifier: CA1883392888
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134834875C= , CM000671.2:g.134834875C= GRCh38
NC_000009.11:g.137726721C= , CM000671.1:g.137726721C= GRCh37
NC_000009.10:g.136866542C= NCBI36
NG_008030.1:g.198070C=

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5137-96C= ENSP00000360885.4:n.5137-96C=
ENST00000371817.8:c.5137-96C= MANE Select ENSP00000360882.3:n.5137-96C=
ENST00000371817.7:c.5137-96C= ENSP00000360882.3:n.5137-96C=
ENST00000371820.3:c.395-96C=
ENST00000618395.4:c.5137-96C= ENSP00000481360.1:n.5137-96C=
NM_000093.4:c.5137-96C= NP_000084.3:n.5137-96C=
NM_001278074.1:c.5137-96C= NP_001265003.1:n.5137-96C=
NR_103451.2:n.71-14666G=
XR_929712.1:n.5821-96C=
XR_929713.1:n.5689-96C=
XM_017014266.2:c.*2122C= XP_016869755.1:n.*2122C=
XR_001746183.1:n.7800C=
NM_000093.5:c.5137-96C= MANE Select NP_000084.3:n.5137-96C=