Canonical Allele Identifier: CA1883306251
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134690980G= , CM000671.2:g.134690980G= GRCh38
NC_000009.11:g.137582826G= , CM000671.1:g.137582826G= GRCh37
NC_000009.10:g.136722647G= NCBI36
NG_008030.1:g.54175G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.178G= ENSP00000360885.4:p.Gly60=
ENST00000371817.8:c.178G= MANE Select ENSP00000360882.3:p.Gly60=
ENST00000371817.7:c.178G= ENSP00000360882.3:p.Gly60=
ENST00000464187.1:n.364G=
ENST00000618395.4:c.178G= ENSP00000481360.1:p.Gly60=
NM_000093.4:c.178G= NP_000084.3:p.Gly60=
NM_001278074.1:c.178G= NP_001265003.1:p.Gly60=
XR_929712.1:n.580G=
XR_929713.1:n.580G=
XM_017014266.2:c.178G= XP_016869755.1:p.Gly60=
XR_001746183.1:n.576G=
NM_000093.5:c.178G= MANE Select NP_000084.3:p.Gly60=