Canonical Allele Identifier: CA1315404807
Gene: COL3A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007533A= , CM000664.2:g.189007533A= GRCh38
NC_000002.11:g.189872259A= , CM000664.1:g.189872259A= GRCh37
NC_000002.10:g.189580504A= NCBI36
NG_007404.1:g.38161A= , LRG_3:g.38161A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3190A= ENSP00000415346.2:p.Thr1064=
ENST00000304636.9:c.3289A= MANE Select ENSP00000304408.4:p.Thr1097=
ENST00000304636.7:c.3289A= ENSP00000304408.3:p.Thr1097=
ENST00000317840.9:c.2528-521A= ENSP00000315243.6:n.2528-521A=
NM_000090.3:c.3289A= , LRG_3t1:c.3289A= NP_000081.1:p.Thr1097=
NM_000090.4:c.3289A= MANE Select NP_000081.2:p.Thr1097=