Canonical Allele Identifier: CA3085660902
Community Standard Title: NM_000090.4(COL3A1):c.555T= (p.Pro185=)
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988107T= , CM000664.2:g.188988107T= GRCh38
NC_000002.11:g.189852833T= , CM000664.1:g.189852833T= GRCh37
NC_000002.10:g.189561078T= NCBI36
NG_007404.1:g.18735T= , LRG_3:g.18735T=

Transcript Alleles

HGVS Amino-acid Change
NM_000090.4:c.555T= MANE Select NP_000081.2:p.Pro185=
ENST00000304636.9:c.555T= MANE Select ENSP00000304408.4:p.Pro185=
NM_000090.3:c.555T= , LRG_3t1:c.555T= NP_000081.1:p.Pro185=
ENST00000304636.7:c.555T= ENSP00000304408.3:p.Pro185=
ENST00000317840.9:c.555T= ENSP00000315243.6:p.Pro185=
ENST00000450867.2:c.555T= ENSP00000415346.2:p.Pro185=