Canonical Allele Identifier: CA076688
Community Standard Title: NM_000090.4(COL3A1):c.531C>A (p.Gly177=)
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188988083C>A , CM000664.2:g.188988083C>A GRCh38
NC_000002.11:g.189852809C>A , CM000664.1:g.189852809C>A GRCh37
NC_000002.10:g.189561054C>A NCBI36
NG_007404.1:g.18711C>A , LRG_3:g.18711C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000090.4:c.531C>A MANE Select NP_000081.2:p.Gly177=
ENST00000304636.9:c.531C>A MANE Select ENSP00000304408.4:p.Gly177=
NM_000090.3:c.531C>A , LRG_3t1:c.531C>A NP_000081.1:p.Gly177=
ENST00000304636.7:c.531C>A ENSP00000304408.3:p.Gly177=
ENST00000317840.9:c.531C>A ENSP00000315243.6:p.Gly177=
ENST00000450867.2:c.531C>A ENSP00000415346.2:p.Gly177=