Canonical Allele Identifier: CA1883345678
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750666A= , CM000671.2:g.134750666A= GRCh38
NC_000009.11:g.137642512A= , CM000671.1:g.137642512A= GRCh37
NC_000009.10:g.136782333A= NCBI36
NG_008030.1:g.113861A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1569+50A= ENSP00000360885.4:n.1569+50A=
ENST00000371817.8:c.1569+50A= MANE Select ENSP00000360882.3:n.1569+50A=
ENST00000371817.7:c.1569+50A= ENSP00000360882.3:n.1569+50A=
ENST00000618395.4:c.1569+50A= ENSP00000481360.1:n.1569+50A=
NM_000093.4:c.1569+50A= NP_000084.3:n.1569+50A=
NM_001278074.1:c.1569+50A= NP_001265003.1:n.1569+50A=
XR_929712.1:n.1971+50A=
XR_929713.1:n.1971+50A=
XM_017014266.2:c.1569+50A= XP_016869755.1:n.1569+50A=
XR_001746183.1:n.1967+50A=
NM_000093.5:c.1569+50A= MANE Select NP_000084.3:n.1569+50A=