Canonical Allele Identifier: CA1883345244
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750408C= , CM000671.2:g.134750408C= GRCh38
NC_000009.11:g.137642254C= , CM000671.1:g.137642254C= GRCh37
NC_000009.10:g.136782075C= NCBI36
NG_008030.1:g.113603C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1495-134C= ENSP00000360885.4:n.1495-134C=
ENST00000371817.8:c.1495-134C= MANE Select ENSP00000360882.3:n.1495-134C=
ENST00000371817.7:c.1495-134C= ENSP00000360882.3:n.1495-134C=
ENST00000618395.4:c.1495-134C= ENSP00000481360.1:n.1495-134C=
NM_000093.4:c.1495-134C= NP_000084.3:n.1495-134C=
NM_001278074.1:c.1495-134C= NP_001265003.1:n.1495-134C=
XR_929712.1:n.1897-134C=
XR_929713.1:n.1897-134C=
XM_017014266.2:c.1495-134C= XP_016869755.1:n.1495-134C=
XR_001746183.1:n.1893-134C=
NM_000093.5:c.1495-134C= MANE Select NP_000084.3:n.1495-134C=