Canonical Allele Identifier: CA349851655
Gene: COL3A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994562G>A , CM000664.2:g.188994562G>A GRCh38
NC_000002.11:g.189859288G>A , CM000664.1:g.189859288G>A GRCh37
NC_000002.10:g.189567533G>A NCBI36
NG_007404.1:g.25190G>A , LRG_3:g.25190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1216G>A ENSP00000415346.2:p.Ala406Thr
ENST00000304636.9:c.1315G>A MANE Select ENSP00000304408.4:p.Ala439Thr
ENST00000304636.7:c.1315G>A ENSP00000304408.3:p.Ala439Thr
ENST00000317840.9:c.1315G>A ENSP00000315243.6:p.Ala439Thr
NM_000090.3:c.1315G>A , LRG_3t1:c.1315G>A NP_000081.1:p.Ala439Thr
NM_000090.4:c.1315G>A MANE Select NP_000081.2:p.Ala439Thr