Canonical Allele Identifier: CA1883345503
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750556C= , CM000671.2:g.134750556C= GRCh38
NC_000009.11:g.137642402C= , CM000671.1:g.137642402C= GRCh37
NC_000009.10:g.136782223C= NCBI36
NG_008030.1:g.113751C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1509C= ENSP00000360885.4:p.Arg503=
ENST00000371817.8:c.1509C= MANE Select ENSP00000360882.3:p.Arg503=
ENST00000371817.7:c.1509C= ENSP00000360882.3:p.Arg503=
ENST00000618395.4:c.1509C= ENSP00000481360.1:p.Arg503=
NM_000093.4:c.1509C= NP_000084.3:p.Arg503=
NM_001278074.1:c.1509C= NP_001265003.1:p.Arg503=
XR_929712.1:n.1911C=
XR_929713.1:n.1911C=
XM_017014266.2:c.1509C= XP_016869755.1:p.Arg503=
XR_001746183.1:n.1907C=
NM_000093.5:c.1509C= MANE Select NP_000084.3:p.Arg503=