Canonical Allele Identifier: CA1315403150
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004258G= , CM000664.2:g.189004258G= GRCh38
NC_000002.11:g.189868984G= , CM000664.1:g.189868984G= GRCh37
NC_000002.10:g.189577229G= NCBI36
NG_007404.1:g.34886G= , LRG_3:g.34886G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2726G= ENSP00000415346.2:p.Gly909=
ENST00000304636.9:c.2825G= MANE Select ENSP00000304408.4:p.Gly942=
ENST00000304636.7:c.2825G= ENSP00000304408.3:p.Gly942=
ENST00000317840.9:c.2527+1222G= ENSP00000315243.6:n.2527+1222G=
NM_000090.3:c.2825G= , LRG_3t1:c.2825G= NP_000081.1:p.Gly942=
NM_000090.4:c.2825G= MANE Select NP_000081.2:p.Gly942=
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