Canonical Allele Identifier: CA1315404825

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007561A= , CM000664.2:g.189007561A=	GRCh38
NC_000002.11:g.189872287A= , CM000664.1:g.189872287A=	GRCh37
NC_000002.10:g.189580532A=	NCBI36
NG_007404.1:g.38189A= , LRG_3:g.38189A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3218A=	ENSP00000415346.2:p.Lys1073=
ENST00000304636.9:c.3317A= MANE Select	ENSP00000304408.4:p.Lys1106=
ENST00000304636.7:c.3317A=	ENSP00000304408.3:p.Lys1106=
ENST00000317840.9:c.2528-493A=	ENSP00000315243.6:n.2528-493A=
NM_000090.3:c.3317A= , LRG_3t1:c.3317A=	NP_000081.1:p.Lys1106=
NM_000090.4:c.3317A= MANE Select	NP_000081.2:p.Lys1106=