Canonical Allele Identifier: CA467668281
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137734107G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842261G>A , CM000671.2:g.134842261G>A GRCh38
NC_000009.11:g.137734107G>A , CM000671.1:g.137734107G>A GRCh37
NC_000009.10:g.136873928G>A NCBI36
NG_008030.1:g.205456G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5475G>A ENSP00000360885.4:p.Gln1825=
ENST00000371817.8:c.5475G>A MANE Select ENSP00000360882.3:p.Gln1825=
ENST00000371817.7:c.5475G>A ENSP00000360882.3:p.Gln1825=
ENST00000618395.4:c.5475G>A ENSP00000481360.1:p.Gln1825=
NM_000093.4:c.5475G>A NP_000084.3:p.Gln1825=
NM_001278074.1:c.5475G>A NP_001265003.1:p.Gln1825=
NR_103451.2:n.71-22052C>T
NM_000093.5:c.5475G>A MANE Select NP_000084.3:p.Gln1825=