Canonical Allele Identifier: CA860893811
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1367083519

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843141dup , CM000671.2:g.134843141dup GRCh38
NC_000009.11:g.137734987dup , CM000671.1:g.137734987dup GRCh37
NC_000009.10:g.136874808dup NCBI36
NG_008030.1:g.206336dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*838dup ENSP00000360885.4:n.*838dup
ENST00000371817.8:c.*838dup MANE Select ENSP00000360882.3:n.*838dup
ENST00000371817.7:c.*838dup ENSP00000360882.3:n.*838dup
ENST00000618395.4:c.*838dup ENSP00000481360.1:n.*838dup
NM_000093.4:c.*838dup NP_000084.3:n.*838dup
NM_001278074.1:c.*838dup NP_001265003.1:n.*838dup
NR_103451.2:n.71-22928dup
NM_000093.5:c.*838dup MANE Select NP_000084.3:n.*838dup