Canonical Allele Identifier: CA2753572095

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993909T>A , CM000664.2:g.188993909T>A	GRCh38
NC_000002.11:g.189858635T>A , CM000664.1:g.189858635T>A	GRCh37
NC_000002.10:g.189566880T>A	NCBI36
NG_007404.1:g.24537T>A , LRG_3:g.24537T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-129T>A	ENSP00000415346.2:n.1051-129T>A
ENST00000304636.9:c.1150-129T>A MANE Select	ENSP00000304408.4:n.1150-129T>A
ENST00000304636.7:c.1150-129T>A	ENSP00000304408.3:n.1150-129T>A
ENST00000317840.9:c.1150-129T>A	ENSP00000315243.6:n.1150-129T>A
ENST00000450867.1:c.149-129T>A
NM_000090.3:c.1150-129T>A , LRG_3t1:c.1150-129T>A	NP_000081.1:n.1150-129T>A
NM_000090.4:c.1150-129T>A MANE Select	NP_000081.2:n.1150-129T>A