Canonical Allele Identifier: CA1315403673

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189005426T= , CM000664.2:g.189005426T=	GRCh38
NC_000002.11:g.189870152T= , CM000664.1:g.189870152T=	GRCh37
NC_000002.10:g.189578397T=	NCBI36
NG_007404.1:g.36054T= , LRG_3:g.36054T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2909T=	ENSP00000415346.2:p.Leu970=
ENST00000304636.9:c.3008T= MANE Select	ENSP00000304408.4:p.Leu1003=
ENST00000304636.7:c.3008T=	ENSP00000304408.3:p.Leu1003=
ENST00000317840.9:c.2527+2390T=	ENSP00000315243.6:n.2527+2390T=
NM_000090.3:c.3008T= , LRG_3t1:c.3008T=	NP_000081.1:p.Leu1003=
NM_000090.4:c.3008T= MANE Select	NP_000081.2:p.Leu1003=