Canonical Allele Identifier: CA375460366
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835014A>T , CM000671.2:g.134835014A>T GRCh38
NC_000009.11:g.137726860A>T , CM000671.1:g.137726860A>T GRCh37
NC_000009.10:g.136866681A>T NCBI36
NG_008030.1:g.198209A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5180A>T ENSP00000360885.4:p.Gln1727Leu
ENST00000371817.8:c.5180A>T MANE Select ENSP00000360882.3:p.Gln1727Leu
ENST00000371817.7:c.5180A>T ENSP00000360882.3:p.Gln1727Leu
ENST00000371820.3:c.438A>T
ENST00000618395.4:c.5180A>T ENSP00000481360.1:p.Gln1727Leu
NM_000093.4:c.5180A>T NP_000084.3:p.Gln1727Leu
NM_001278074.1:c.5180A>T NP_001265003.1:p.Gln1727Leu
NR_103451.2:n.71-14805T>A
XR_929712.1:n.5864A>T
XR_929713.1:n.5732A>T
NM_000093.5:c.5180A>T MANE Select NP_000084.3:p.Gln1727Leu