Canonical Allele Identifier: CA349844810
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189870148G>A (hg19) chr2:g.189005422G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189005422G>A , CM000664.2:g.189005422G>A GRCh38
NC_000002.11:g.189870148G>A , CM000664.1:g.189870148G>A GRCh37
NC_000002.10:g.189578393G>A NCBI36
NG_007404.1:g.36050G>A , LRG_3:g.36050G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.2905G>A ENSP00000415346.2:p.Gly969Ser
ENST00000304636.9:c.3004G>A MANE Select ENSP00000304408.4:p.Gly1002Ser
ENST00000304636.7:c.3004G>A ENSP00000304408.3:p.Gly1002Ser
ENST00000317840.9:c.2527+2386G>A ENSP00000315243.6:n.2527+2386G>A
NM_000090.3:c.3004G>A , LRG_3t1:c.3004G>A NP_000081.1:p.Gly1002Ser
NM_000090.4:c.3004G>A MANE Select NP_000081.2:p.Gly1002Ser
Search 100 bp 5'
Search 100 bp 3'