Canonical Allele Identifier: CA1315402645
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189003166C= , CM000664.2:g.189003166C= GRCh38
NC_000002.11:g.189867892C= , CM000664.1:g.189867892C= GRCh37
NC_000002.10:g.189576137C= NCBI36
NG_007404.1:g.33794C= , LRG_3:g.33794C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2454+104C= ENSP00000415346.2:n.2454+104C=
ENST00000304636.9:c.2553+104C= MANE Select ENSP00000304408.4:n.2553+104C=
ENST00000304636.7:c.2553+104C= ENSP00000304408.3:n.2553+104C=
ENST00000317840.9:c.2527+130C= ENSP00000315243.6:n.2527+130C=
NM_000090.3:c.2553+104C= , LRG_3t1:c.2553+104C= NP_000081.1:n.2553+104C=
NM_000090.4:c.2553+104C= MANE Select NP_000081.2:n.2553+104C=