Canonical Allele Identifier: CA1883370687
Community Standard Title: NM_000093.5(COL5A1):c.4466G= (p.Gly1489=)
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134820135G= , CM000671.2:g.134820135G= GRCh38
NC_000009.11:g.137711981G= , CM000671.1:g.137711981G= GRCh37
NC_000009.10:g.136851802G= NCBI36
NG_008030.1:g.183330G=

Transcript Alleles

HGVS Amino-acid Change
NM_000093.5:c.4466G= MANE Select NP_000084.3:p.Gly1489=
ENST00000371817.8:c.4466G= MANE Select ENSP00000360882.3:p.Gly1489=
NM_000093.4:c.4466G= NP_000084.3:p.Gly1489=
NM_001278074.1:c.4466G= NP_001265003.1:p.Gly1489=
NR_103451.2:n.145C=
ENST00000371817.7:c.4466G= ENSP00000360882.3:p.Gly1489=
ENST00000371820.4:c.4466G= ENSP00000360885.4:p.Gly1489=
ENST00000618395.4:c.4466G= ENSP00000481360.1:p.Gly1489=
XM_017014266.2:c.4466G= XP_016869755.1:p.Gly1489=
XR_001746183.1:n.4864G=
XR_929712.1:n.4868G=
XR_929713.1:n.4868G=