Canonical Allele Identifier: CA1883393231
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835492C= , CM000671.2:g.134835492C= GRCh38
NC_000009.11:g.137727338C= , CM000671.1:g.137727338C= GRCh37
NC_000009.10:g.136867159C= NCBI36
NG_008030.1:g.198687C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5370+288C= ENSP00000360885.4:n.5370+288C=
ENST00000371817.8:c.5370+288C= MANE Select ENSP00000360882.3:n.5370+288C=
ENST00000371817.7:c.5370+288C= ENSP00000360882.3:n.5370+288C=
ENST00000618395.4:c.5370+288C= ENSP00000481360.1:n.5370+288C=
NM_000093.4:c.5370+288C= NP_000084.3:n.5370+288C=
NM_001278074.1:c.5370+288C= NP_001265003.1:n.5370+288C=
NR_103451.2:n.71-15283G=
NM_000093.5:c.5370+288C= MANE Select NP_000084.3:n.5370+288C=
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