Canonical Allele Identifier: CA1315405537
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189009047G= , CM000664.2:g.189009047G= GRCh38
NC_000002.11:g.189873773G= , CM000664.1:g.189873773G= GRCh37
NC_000002.10:g.189582018G= NCBI36
NG_007404.1:g.39675G= , LRG_3:g.39675G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3550G= ENSP00000415346.2:p.Ala1184=
ENST00000304636.9:c.3649G= MANE Select ENSP00000304408.4:p.Ala1217=
ENST00000304636.7:c.3649G= ENSP00000304408.3:p.Ala1217=
ENST00000317840.9:c.2740G= ENSP00000315243.6:p.Ala914=
ENST00000487010.1:n.746G=
NM_000090.3:c.3649G= , LRG_3t1:c.3649G= NP_000081.1:p.Ala1217=
NM_000090.4:c.3649G= MANE Select NP_000081.2:p.Ala1217=