Canonical Allele Identifier: CA467666890
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137726888C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835042C>A , CM000671.2:g.134835042C>A GRCh38
NC_000009.11:g.137726888C>A , CM000671.1:g.137726888C>A GRCh37
NC_000009.10:g.136866709C>A NCBI36
NG_008030.1:g.198237C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5208C>A ENSP00000360885.4:p.Ala1736=
ENST00000371817.8:c.5208C>A MANE Select ENSP00000360882.3:p.Ala1736=
ENST00000371817.7:c.5208C>A ENSP00000360882.3:p.Ala1736=
ENST00000371820.3:c.466C>A
ENST00000618395.4:c.5208C>A ENSP00000481360.1:p.Ala1736=
NM_000093.4:c.5208C>A NP_000084.3:p.Ala1736=
NM_001278074.1:c.5208C>A NP_001265003.1:p.Ala1736=
NR_103451.2:n.71-14833G>T
XR_929712.1:n.5892C>A
XR_929713.1:n.5760C>A
NM_000093.5:c.5208C>A MANE Select NP_000084.3:p.Ala1736=