Canonical Allele Identifier: CA1315398428
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994240G= , CM000664.2:g.188994240G= GRCh38
NC_000002.11:g.189858966G= , CM000664.1:g.189858966G= GRCh37
NC_000002.10:g.189567211G= NCBI36
NG_007404.1:g.24868G= , LRG_3:g.24868G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1102G= ENSP00000415346.2:p.Ala368=
ENST00000304636.9:c.1201G= MANE Select ENSP00000304408.4:p.Ala401=
ENST00000304636.7:c.1201G= ENSP00000304408.3:p.Ala401=
ENST00000317840.9:c.1201G= ENSP00000315243.6:p.Ala401=
ENST00000450867.1:c.200G=
NM_000090.3:c.1201G= , LRG_3t1:c.1201G= NP_000081.1:p.Ala401=
NM_000090.4:c.1201G= MANE Select NP_000081.2:p.Ala401=