Canonical Allele Identifier: CA1315398191
Gene: COL3A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993708G= , CM000664.2:g.188993708G= GRCh38
NC_000002.11:g.189858434G= , CM000664.1:g.189858434G= GRCh37
NC_000002.10:g.189566679G= NCBI36
NG_007404.1:g.24336G= , LRG_3:g.24336G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-330G= ENSP00000415346.2:n.1051-330G=
ENST00000304636.9:c.1149+249G= MANE Select ENSP00000304408.4:n.1149+249G=
ENST00000304636.7:c.1149+249G= ENSP00000304408.3:n.1149+249G=
ENST00000317840.9:c.1149+249G= ENSP00000315243.6:n.1149+249G=
ENST00000450867.1:c.149-330G=
NM_000090.3:c.1149+249G= , LRG_3t1:c.1149+249G= NP_000081.1:n.1149+249G=
NM_000090.4:c.1149+249G= MANE Select NP_000081.2:n.1149+249G=
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