Canonical Allele Identifier: CA1883386790

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134824793C= , CM000671.2:g.134824793C=	GRCh38
NC_000009.11:g.137716639C= , CM000671.1:g.137716639C=	GRCh37
NC_000009.10:g.136856460C=	NCBI36
NG_008030.1:g.187988C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4892C= MANE Select	NP_000084.3:p.Thr1631=
ENST00000371817.8:c.4892C= MANE Select	ENSP00000360882.3:p.Thr1631=
NM_000093.4:c.4892C=	NP_000084.3:p.Thr1631=
NM_001278074.1:c.4892C=	NP_001265003.1:p.Thr1631=
NR_103451.2:n.71-4584G=
ENST00000371817.7:c.4892C=	ENSP00000360882.3:p.Thr1631=
ENST00000371820.3:c.150C=
ENST00000371820.4:c.4892C=	ENSP00000360885.4:p.Thr1631=
ENST00000460264.5:n.360C=
ENST00000465877.1:n.72C=
ENST00000618395.4:c.4892C=	ENSP00000481360.1:p.Thr1631=
XM_017014266.2:c.4892C=	XP_016869755.1:p.Thr1631=
XR_001746183.1:n.5290C=
XR_929712.1:n.5294C=
XR_929713.1:n.5294C=