Canonical Allele Identifier: CA349845863
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007581G>A , CM000664.2:g.189007581G>A GRCh38
NC_000002.11:g.189872307G>A , CM000664.1:g.189872307G>A GRCh37
NC_000002.10:g.189580552G>A NCBI36
NG_007404.1:g.38209G>A , LRG_3:g.38209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3238G>A ENSP00000415346.2:p.Gly1080Ser
ENST00000304636.9:c.3337G>A MANE Select ENSP00000304408.4:p.Gly1113Ser
ENST00000304636.7:c.3337G>A ENSP00000304408.3:p.Gly1113Ser
ENST00000317840.9:c.2528-473G>A ENSP00000315243.6:n.2528-473G>A
NM_000090.3:c.3337G>A , LRG_3t1:c.3337G>A NP_000081.1:p.Gly1113Ser
NM_000090.4:c.3337G>A MANE Select NP_000081.2:p.Gly1113Ser