Canonical Allele Identifier: CA1883392955
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134834992G= , CM000671.2:g.134834992G= GRCh38
NC_000009.11:g.137726838G= , CM000671.1:g.137726838G= GRCh37
NC_000009.10:g.136866659G= NCBI36
NG_008030.1:g.198187G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5158G= ENSP00000360885.4:p.Gly1720=
ENST00000371817.8:c.5158G= MANE Select ENSP00000360882.3:p.Gly1720=
ENST00000371817.7:c.5158G= ENSP00000360882.3:p.Gly1720=
ENST00000371820.3:c.416G=
ENST00000618395.4:c.5158G= ENSP00000481360.1:p.Gly1720=
NM_000093.4:c.5158G= NP_000084.3:p.Gly1720=
NM_001278074.1:c.5158G= NP_001265003.1:p.Gly1720=
NR_103451.2:n.71-14783C=
XR_929712.1:n.5842G=
XR_929713.1:n.5710G=
NM_000093.5:c.5158G= MANE Select NP_000084.3:p.Gly1720=