Canonical Allele Identifier: CA1883381845

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134806229C= , CM000671.2:g.134806229C=	GRCh38
NC_000009.11:g.137698075C= , CM000671.1:g.137698075C=	GRCh37
NC_000009.10:g.136837896C=	NCBI36
NG_008030.1:g.169424C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.3299C= MANE Select	NP_000084.3:p.Pro1100=
ENST00000371817.8:c.3299C= MANE Select	ENSP00000360882.3:p.Pro1100=
NM_000093.4:c.3299C=	NP_000084.3:p.Pro1100=
NM_001278074.1:c.3299C=	NP_001265003.1:p.Pro1100=
ENST00000371817.7:c.3299C=	ENSP00000360882.3:p.Pro1100=
ENST00000371820.4:c.3299C=	ENSP00000360885.4:p.Pro1100=
ENST00000618395.4:c.3299C=	ENSP00000481360.1:p.Pro1100=
XM_017014266.2:c.3299C=	XP_016869755.1:p.Pro1100=
XR_001746183.1:n.3697C=
XR_929712.1:n.3701C=
XR_929713.1:n.3701C=