Canonical Allele Identifier: CA1883392967

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835019A= , CM000671.2:g.134835019A=	GRCh38
NC_000009.11:g.137726865A= , CM000671.1:g.137726865A=	GRCh37
NC_000009.10:g.136866686A=	NCBI36
NG_008030.1:g.198214A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5185A=	ENSP00000360885.4:p.Thr1729=
ENST00000371817.8:c.5185A= MANE Select	ENSP00000360882.3:p.Thr1729=
ENST00000371817.7:c.5185A=	ENSP00000360882.3:p.Thr1729=
ENST00000371820.3:c.443A=
ENST00000618395.4:c.5185A=	ENSP00000481360.1:p.Thr1729=
NM_000093.4:c.5185A=	NP_000084.3:p.Thr1729=
NM_001278074.1:c.5185A=	NP_001265003.1:p.Thr1729=
NR_103451.2:n.71-14810T=
XR_929712.1:n.5869A=
XR_929713.1:n.5737A=
NM_000093.5:c.5185A= MANE Select	NP_000084.3:p.Thr1729=