Canonical Allele Identifier: CA1315396720
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188990161G= , CM000664.2:g.188990161G= GRCh38
NC_000002.11:g.189854887G= , CM000664.1:g.189854887G= GRCh37
NC_000002.10:g.189563132G= NCBI36
NG_007404.1:g.20789G= , LRG_3:g.20789G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.744+12G= ENSP00000415346.2:n.744+12G=
ENST00000304636.9:c.744+12G= MANE Select ENSP00000304408.4:n.744+12G=
ENST00000304636.7:c.744+12G= ENSP00000304408.3:n.744+12G=
ENST00000317840.9:c.744+12G= ENSP00000315243.6:n.744+12G=
NM_000090.3:c.744+12G= , LRG_3t1:c.744+12G= NP_000081.1:n.744+12G=
NM_000090.4:c.744+12G= MANE Select NP_000081.2:n.744+12G=