Canonical Allele Identifier: CA1315400940
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188999423G= , CM000664.2:g.188999423G= GRCh38
NC_000002.11:g.189864149G= , CM000664.1:g.189864149G= GRCh37
NC_000002.10:g.189572394G= NCBI36
NG_007404.1:g.30051G= , LRG_3:g.30051G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2022+40G= ENSP00000415346.2:n.2022+40G=
ENST00000304636.9:c.2121+40G= MANE Select ENSP00000304408.4:n.2121+40G=
ENST00000304636.7:c.2121+40G= ENSP00000304408.3:n.2121+40G=
ENST00000317840.9:c.2121+40G= ENSP00000315243.6:n.2121+40G=
NM_000090.3:c.2121+40G= , LRG_3t1:c.2121+40G= NP_000081.1:n.2121+40G=
NM_000090.4:c.2121+40G= MANE Select NP_000081.2:n.2121+40G=
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