Canonical Allele Identifier: CA375460732
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137726968C>A (hg19) chr9:g.134835122C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835122C>A , CM000671.2:g.134835122C>A GRCh38
NC_000009.11:g.137726968C>A , CM000671.1:g.137726968C>A GRCh37
NC_000009.10:g.136866789C>A NCBI36
NG_008030.1:g.198317C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5288C>A ENSP00000360885.4:p.Ala1763Asp
ENST00000371817.8:c.5288C>A MANE Select ENSP00000360882.3:p.Ala1763Asp
ENST00000371817.7:c.5288C>A ENSP00000360882.3:p.Ala1763Asp
ENST00000371820.3:c.546C>A
ENST00000618395.4:c.5288C>A ENSP00000481360.1:p.Ala1763Asp
NM_000093.4:c.5288C>A NP_000084.3:p.Ala1763Asp
NM_001278074.1:c.5288C>A NP_001265003.1:p.Ala1763Asp
NR_103451.2:n.71-14913G>T
NM_000093.5:c.5288C>A MANE Select NP_000084.3:p.Ala1763Asp
Search 100 bp 5'
Search 100 bp 3'