Canonical Allele Identifier: CA467667252
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137726999G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835153G>A , CM000671.2:g.134835153G>A GRCh38
NC_000009.11:g.137726999G>A , CM000671.1:g.137726999G>A GRCh37
NC_000009.10:g.136866820G>A NCBI36
NG_008030.1:g.198348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5319G>A ENSP00000360885.4:p.Glu1773=
ENST00000371817.8:c.5319G>A MANE Select ENSP00000360882.3:p.Glu1773=
ENST00000371817.7:c.5319G>A ENSP00000360882.3:p.Glu1773=
ENST00000371820.3:c.577G>A
ENST00000618395.4:c.5319G>A ENSP00000481360.1:p.Glu1773=
NM_000093.4:c.5319G>A NP_000084.3:p.Glu1773=
NM_001278074.1:c.5319G>A NP_001265003.1:p.Glu1773=
NR_103451.2:n.71-14944C>T
NM_000093.5:c.5319G>A MANE Select NP_000084.3:p.Glu1773=