Canonical Allele Identifier: CA1883315505

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134701198C= , CM000671.2:g.134701198C=	GRCh38
NC_000009.11:g.137593044C= , CM000671.1:g.137593044C=	GRCh37
NC_000009.10:g.136732865C=	NCBI36
NG_008030.1:g.64393C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.519C=	ENSP00000360885.4:p.His173=
ENST00000371817.8:c.519C= MANE Select	ENSP00000360882.3:p.His173=
ENST00000371817.7:c.519C=	ENSP00000360882.3:p.His173=
ENST00000464187.1:n.941C=
ENST00000618395.4:c.519C=	ENSP00000481360.1:p.His173=
NM_000093.4:c.519C=	NP_000084.3:p.His173=
NM_001278074.1:c.519C=	NP_001265003.1:p.His173=
XR_929712.1:n.921C=
XR_929713.1:n.921C=
XM_017014266.2:c.519C=	XP_016869755.1:p.His173=
XR_001746183.1:n.917C=
NM_000093.5:c.519C= MANE Select	NP_000084.3:p.His173=