Canonical Allele Identifier: CA5318680
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs758197769

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731554C>G , CM000671.2:g.134731554C>G GRCh38
NC_000009.11:g.137623400C>G , CM000671.1:g.137623400C>G GRCh37
NC_000009.10:g.136763221C>G NCBI36
NG_008030.1:g.94749C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1223C>G ENSP00000360885.4:p.Thr408Arg
ENST00000371817.8:c.1223C>G MANE Select ENSP00000360882.3:p.Thr408Arg
ENST00000371817.7:c.1223C>G ENSP00000360882.3:p.Thr408Arg
ENST00000618395.4:c.1223C>G ENSP00000481360.1:p.Thr408Arg
NM_000093.4:c.1223C>G NP_000084.3:p.Thr408Arg
NM_001278074.1:c.1223C>G NP_001265003.1:p.Thr408Arg
XR_929712.1:n.1625C>G
XR_929713.1:n.1625C>G
XM_017014266.2:c.1223C>G XP_016869755.1:p.Thr408Arg
XR_001746183.1:n.1621C>G
NM_000093.5:c.1223C>G MANE Select NP_000084.3:p.Thr408Arg