Canonical Allele Identifier: CA1315404836
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007580T= , CM000664.2:g.189007580T= GRCh38
NC_000002.11:g.189872306T= , CM000664.1:g.189872306T= GRCh37
NC_000002.10:g.189580551T= NCBI36
NG_007404.1:g.38208T= , LRG_3:g.38208T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3237T= ENSP00000415346.2:p.Pro1079=
ENST00000304636.9:c.3336T= MANE Select ENSP00000304408.4:p.Pro1112=
ENST00000304636.7:c.3336T= ENSP00000304408.3:p.Pro1112=
ENST00000317840.9:c.2528-474T= ENSP00000315243.6:n.2528-474T=
NM_000090.3:c.3336T= , LRG_3t1:c.3336T= NP_000081.1:p.Pro1112=
NM_000090.4:c.3336T= MANE Select NP_000081.2:p.Pro1112=