Canonical Allele Identifier: CA349851157
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994051T>A , CM000664.2:g.188994051T>A GRCh38
NC_000002.11:g.189858777T>A , CM000664.1:g.189858777T>A GRCh37
NC_000002.10:g.189567022T>A NCBI36
NG_007404.1:g.24679T>A , LRG_3:g.24679T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1064T>A ENSP00000415346.2:p.Ile355Asn
ENST00000304636.9:c.1163T>A MANE Select ENSP00000304408.4:p.Ile388Asn
ENST00000304636.7:c.1163T>A ENSP00000304408.3:p.Ile388Asn
ENST00000317840.9:c.1163T>A ENSP00000315243.6:p.Ile388Asn
ENST00000450867.1:c.162T>A
NM_000090.3:c.1163T>A , LRG_3t1:c.1163T>A NP_000081.1:p.Ile388Asn
NM_000090.4:c.1163T>A MANE Select NP_000081.2:p.Ile388Asn