Canonical Allele Identifier: CA375460959
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835181C>G , CM000671.2:g.134835181C>G GRCh38
NC_000009.11:g.137727027C>G , CM000671.1:g.137727027C>G GRCh37
NC_000009.10:g.136866848C>G NCBI36
NG_008030.1:g.198376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5347C>G ENSP00000360885.4:p.Arg1783Gly
ENST00000371817.8:c.5347C>G MANE Select ENSP00000360882.3:p.Arg1783Gly
ENST00000371817.7:c.5347C>G ENSP00000360882.3:p.Arg1783Gly
ENST00000371820.3:c.605C>G
ENST00000618395.4:c.5347C>G ENSP00000481360.1:p.Arg1783Gly
NM_000093.4:c.5347C>G NP_000084.3:p.Arg1783Gly
NM_001278074.1:c.5347C>G NP_001265003.1:p.Arg1783Gly
NR_103451.2:n.71-14972G>C
NM_000093.5:c.5347C>G MANE Select NP_000084.3:p.Arg1783Gly