Canonical Allele Identifier: CA349844085
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189868805C>A (hg19) chr2:g.189004079C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189004079C>A , CM000664.2:g.189004079C>A GRCh38
NC_000002.11:g.189868805C>A , CM000664.1:g.189868805C>A GRCh37
NC_000002.10:g.189577050C>A NCBI36
NG_007404.1:g.34707C>A , LRG_3:g.34707C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2660C>A ENSP00000415346.2:p.Ser887Tyr
ENST00000304636.9:c.2759C>A MANE Select ENSP00000304408.4:p.Ser920Tyr
ENST00000304636.7:c.2759C>A ENSP00000304408.3:p.Ser920Tyr
ENST00000317840.9:c.2527+1043C>A ENSP00000315243.6:n.2527+1043C>A
NM_000090.3:c.2759C>A , LRG_3t1:c.2759C>A NP_000081.1:p.Ser920Tyr
NM_000090.4:c.2759C>A MANE Select NP_000081.2:p.Ser920Tyr
Search 100 bp 5'
Search 100 bp 3'