Canonical Allele Identifier: CA375460772
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835133C>A , CM000671.2:g.134835133C>A GRCh38
NC_000009.11:g.137726979C>A , CM000671.1:g.137726979C>A GRCh37
NC_000009.10:g.136866800C>A NCBI36
NG_008030.1:g.198328C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5299C>A ENSP00000360885.4:p.Leu1767Met
ENST00000371817.8:c.5299C>A MANE Select ENSP00000360882.3:p.Leu1767Met
ENST00000371817.7:c.5299C>A ENSP00000360882.3:p.Leu1767Met
ENST00000371820.3:c.557C>A
ENST00000618395.4:c.5299C>A ENSP00000481360.1:p.Leu1767Met
NM_000093.4:c.5299C>A NP_000084.3:p.Leu1767Met
NM_001278074.1:c.5299C>A NP_001265003.1:p.Leu1767Met
NR_103451.2:n.71-14924G>T
NM_000093.5:c.5299C>A MANE Select NP_000084.3:p.Leu1767Met