Canonical Allele Identifier: CA1883397633
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843347C= , CM000671.2:g.134843347C= GRCh38
NC_000009.11:g.137735193C= , CM000671.1:g.137735193C= GRCh37
NC_000009.10:g.136875014C= NCBI36
NG_008030.1:g.206542C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1044C= ENSP00000360885.4:n.*1044C=
ENST00000371817.8:c.*1044C= MANE Select ENSP00000360882.3:n.*1044C=
ENST00000371817.7:c.*1044C= ENSP00000360882.3:n.*1044C=
ENST00000618395.4:c.*1044C= ENSP00000481360.1:n.*1044C=
NM_000093.4:c.*1044C= NP_000084.3:n.*1044C=
NM_001278074.1:c.*1044C= NP_001265003.1:n.*1044C=
NR_103451.2:n.71-23138G=
NM_000093.5:c.*1044C= MANE Select NP_000084.3:n.*1044C=
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