Canonical Allele Identifier: CA1883397250
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842879T= , CM000671.2:g.134842879T= GRCh38
NC_000009.11:g.137734725T= , CM000671.1:g.137734725T= GRCh37
NC_000009.10:g.136874546T= NCBI36
NG_008030.1:g.206074T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*576T= ENSP00000360885.4:n.*576T=
ENST00000371817.8:c.*576T= MANE Select ENSP00000360882.3:n.*576T=
ENST00000371817.7:c.*576T= ENSP00000360882.3:n.*576T=
ENST00000618395.4:c.*576T= ENSP00000481360.1:n.*576T=
NM_000093.4:c.*576T= NP_000084.3:n.*576T=
NM_001278074.1:c.*576T= NP_001265003.1:n.*576T=
NR_103451.2:n.71-22670A=
NM_000093.5:c.*576T= MANE Select NP_000084.3:n.*576T=
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