Canonical Allele Identifier: CA1315396196
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989434T= , CM000664.2:g.188989434T= GRCh38
NC_000002.11:g.189854160T= , CM000664.1:g.189854160T= GRCh37
NC_000002.10:g.189562405T= NCBI36
NG_007404.1:g.20062T= , LRG_3:g.20062T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.675T= ENSP00000415346.2:p.Gly225=
ENST00000304636.9:c.675T= MANE Select ENSP00000304408.4:p.Gly225=
ENST00000304636.7:c.675T= ENSP00000304408.3:p.Gly225=
ENST00000317840.9:c.675T= ENSP00000315243.6:p.Gly225=
NM_000090.3:c.675T= , LRG_3t1:c.675T= NP_000081.1:p.Gly225=
NM_000090.4:c.675T= MANE Select NP_000081.2:p.Gly225=