Canonical Allele Identifier: CA1883392933
Community Standard Title: NM_000093.5(COL5A1):c.5137-11T=
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134834960T= , CM000671.2:g.134834960T= GRCh38
NC_000009.11:g.137726806T= , CM000671.1:g.137726806T= GRCh37
NC_000009.10:g.136866627T= NCBI36
NG_008030.1:g.198155T=

Transcript Alleles

HGVS Amino-acid Change
NM_000093.5:c.5137-11T= MANE Select NP_000084.3:n.5137-11T=
ENST00000371817.8:c.5137-11T= MANE Select ENSP00000360882.3:n.5137-11T=
NM_000093.4:c.5137-11T= NP_000084.3:n.5137-11T=
NM_001278074.1:c.5137-11T= NP_001265003.1:n.5137-11T=
NR_103451.2:n.71-14751A=
ENST00000371817.7:c.5137-11T= ENSP00000360882.3:n.5137-11T=
ENST00000371820.3:c.395-11T=
ENST00000371820.4:c.5137-11T= ENSP00000360885.4:n.5137-11T=
ENST00000618395.4:c.5137-11T= ENSP00000481360.1:n.5137-11T=
XR_929712.1:n.5821-11T=
XR_929713.1:n.5689-11T=