Canonical Allele Identifier: CA1883392962
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835003G= , CM000671.2:g.134835003G= GRCh38
NC_000009.11:g.137726849G= , CM000671.1:g.137726849G= GRCh37
NC_000009.10:g.136866670G= NCBI36
NG_008030.1:g.198198G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5169G= ENSP00000360885.4:p.Val1723=
ENST00000371817.8:c.5169G= MANE Select ENSP00000360882.3:p.Val1723=
ENST00000371817.7:c.5169G= ENSP00000360882.3:p.Val1723=
ENST00000371820.3:c.427G=
ENST00000618395.4:c.5169G= ENSP00000481360.1:p.Val1723=
NM_000093.4:c.5169G= NP_000084.3:p.Val1723=
NM_001278074.1:c.5169G= NP_001265003.1:p.Val1723=
NR_103451.2:n.71-14794C=
XR_929712.1:n.5853G=
XR_929713.1:n.5721G=
NM_000093.5:c.5169G= MANE Select NP_000084.3:p.Val1723=