Canonical Allele Identifier: CA430313288
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189872276T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007550T>A , CM000664.2:g.189007550T>A GRCh38
NC_000002.11:g.189872276T>A , CM000664.1:g.189872276T>A GRCh37
NC_000002.10:g.189580521T>A NCBI36
NG_007404.1:g.38178T>A , LRG_3:g.38178T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3207T>A ENSP00000415346.2:p.Ala1069=
ENST00000304636.9:c.3306T>A MANE Select ENSP00000304408.4:p.Ala1102=
ENST00000304636.7:c.3306T>A ENSP00000304408.3:p.Ala1102=
ENST00000317840.9:c.2528-504T>A ENSP00000315243.6:n.2528-504T>A
NM_000090.3:c.3306T>A , LRG_3t1:c.3306T>A NP_000081.1:p.Ala1102=
NM_000090.4:c.3306T>A MANE Select NP_000081.2:p.Ala1102=