Canonical Allele Identifier: CA1315403057
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004089A= , CM000664.2:g.189004089A= GRCh38
NC_000002.11:g.189868815A= , CM000664.1:g.189868815A= GRCh37
NC_000002.10:g.189577060A= NCBI36
NG_007404.1:g.34717A= , LRG_3:g.34717A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2670A= ENSP00000415346.2:p.Lys890=
ENST00000304636.9:c.2769A= MANE Select ENSP00000304408.4:p.Lys923=
ENST00000304636.7:c.2769A= ENSP00000304408.3:p.Lys923=
ENST00000317840.9:c.2527+1053A= ENSP00000315243.6:n.2527+1053A=
NM_000090.3:c.2769A= , LRG_3t1:c.2769A= NP_000081.1:p.Lys923=
NM_000090.4:c.2769A= MANE Select NP_000081.2:p.Lys923=