Canonical Allele Identifier: CA2753571978
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989567T>A , CM000664.2:g.188989567T>A GRCh38
NC_000002.11:g.189854293T>A , CM000664.1:g.189854293T>A GRCh37
NC_000002.10:g.189562538T>A NCBI36
NG_007404.1:g.20195T>A , LRG_3:g.20195T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.690+118T>A ENSP00000415346.2:n.690+118T>A
ENST00000304636.9:c.690+118T>A MANE Select ENSP00000304408.4:n.690+118T>A
ENST00000304636.7:c.690+118T>A ENSP00000304408.3:n.690+118T>A
ENST00000317840.9:c.690+118T>A ENSP00000315243.6:n.690+118T>A
NM_000090.3:c.690+118T>A , LRG_3t1:c.690+118T>A NP_000081.1:n.690+118T>A
NM_000090.4:c.690+118T>A MANE Select NP_000081.2:n.690+118T>A
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