Canonical Allele Identifier: CA375460361
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137726859C>G (hg19) chr9:g.134835013C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835013C>G , CM000671.2:g.134835013C>G GRCh38
NC_000009.11:g.137726859C>G , CM000671.1:g.137726859C>G GRCh37
NC_000009.10:g.136866680C>G NCBI36
NG_008030.1:g.198208C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5179C>G ENSP00000360885.4:p.Gln1727Glu
ENST00000371817.8:c.5179C>G MANE Select ENSP00000360882.3:p.Gln1727Glu
ENST00000371817.7:c.5179C>G ENSP00000360882.3:p.Gln1727Glu
ENST00000371820.3:c.437C>G
ENST00000618395.4:c.5179C>G ENSP00000481360.1:p.Gln1727Glu
NM_000093.4:c.5179C>G NP_000084.3:p.Gln1727Glu
NM_001278074.1:c.5179C>G NP_001265003.1:p.Gln1727Glu
NR_103451.2:n.71-14804G>C
XR_929712.1:n.5863C>G
XR_929713.1:n.5731C>G
NM_000093.5:c.5179C>G MANE Select NP_000084.3:p.Gln1727Glu
Search 100 bp 5'
Search 100 bp 3'