Canonical Allele Identifier: CA290308

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134829969T>C , CM000671.2:g.134829969T>C	GRCh38
NC_000009.11:g.137721815T>C , CM000671.1:g.137721815T>C	GRCh37
NC_000009.10:g.136861636T>C	NCBI36
NG_008030.1:g.193164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5068-139T>C	ENSP00000360885.4:n.5068-139T>C
ENST00000371817.8:c.5068-7T>C MANE Select	ENSP00000360882.3:n.5068-7T>C
ENST00000371817.7:c.5068-7T>C	ENSP00000360882.3:n.5068-7T>C
ENST00000371820.3:c.326-139T>C
ENST00000460264.5:n.536-7T>C
ENST00000465877.1:n.248-7T>C
ENST00000618395.4:c.5068-139T>C	ENSP00000481360.1:n.5068-139T>C
NM_000093.4:c.5068-7T>C	NP_000084.3:n.5068-7T>C
NM_001278074.1:c.5068-139T>C	NP_001265003.1:n.5068-139T>C
NR_103451.2:n.71-9760A>G
XR_929712.1:n.5470-7T>C
XR_929713.1:n.5470-139T>C
XM_017014266.2:c.5068-139T>C	XP_016869755.1:n.5068-139T>C
XR_001746183.1:n.5466-7T>C
NM_000093.5:c.5068-7T>C MANE Select	NP_000084.3:n.5068-7T>C