Canonical Allele Identifier: CA1315398543
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994489T= , CM000664.2:g.188994489T= GRCh38
NC_000002.11:g.189859215T= , CM000664.1:g.189859215T= GRCh37
NC_000002.10:g.189567460T= NCBI36
NG_007404.1:g.25117T= , LRG_3:g.25117T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1195-52T= ENSP00000415346.2:n.1195-52T=
ENST00000304636.9:c.1294-52T= MANE Select ENSP00000304408.4:n.1294-52T=
ENST00000304636.7:c.1294-52T= ENSP00000304408.3:n.1294-52T=
ENST00000317840.9:c.1294-52T= ENSP00000315243.6:n.1294-52T=
NM_000090.3:c.1294-52T= , LRG_3t1:c.1294-52T= NP_000081.1:n.1294-52T=
NM_000090.4:c.1294-52T= MANE Select NP_000081.2:n.1294-52T=