Canonical Allele Identifier: CA2753572117
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994476T>C , CM000664.2:g.188994476T>C GRCh38
NC_000002.11:g.189859202T>C , CM000664.1:g.189859202T>C GRCh37
NC_000002.10:g.189567447T>C NCBI36
NG_007404.1:g.25104T>C , LRG_3:g.25104T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1195-65T>C ENSP00000415346.2:n.1195-65T>C
ENST00000304636.9:c.1294-65T>C MANE Select ENSP00000304408.4:n.1294-65T>C
ENST00000304636.7:c.1294-65T>C ENSP00000304408.3:n.1294-65T>C
ENST00000317840.9:c.1294-65T>C ENSP00000315243.6:n.1294-65T>C
NM_000090.3:c.1294-65T>C , LRG_3t1:c.1294-65T>C NP_000081.1:n.1294-65T>C
NM_000090.4:c.1294-65T>C MANE Select NP_000081.2:n.1294-65T>C
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