Canonical Allele Identifier: CA375462130
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137734130C>G (hg19) chr9:g.134842284C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842284C>G , CM000671.2:g.134842284C>G GRCh38
NC_000009.11:g.137734130C>G , CM000671.1:g.137734130C>G GRCh37
NC_000009.10:g.136873951C>G NCBI36
NG_008030.1:g.205479C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5498C>G ENSP00000360885.4:p.Pro1833Arg
ENST00000371817.8:c.5498C>G MANE Select ENSP00000360882.3:p.Pro1833Arg
ENST00000371817.7:c.5498C>G ENSP00000360882.3:p.Pro1833Arg
ENST00000618395.4:c.5498C>G ENSP00000481360.1:p.Pro1833Arg
NM_000093.4:c.5498C>G NP_000084.3:p.Pro1833Arg
NM_001278074.1:c.5498C>G NP_001265003.1:p.Pro1833Arg
NR_103451.2:n.71-22075G>C
NM_000093.5:c.5498C>G MANE Select NP_000084.3:p.Pro1833Arg
Search 100 bp 5'
Search 100 bp 3'