Canonical Allele Identifier: CA290310

Gene: COL5A1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834960T>C , CM000671.2:g.134834960T>C	GRCh38
NC_000009.11:g.137726806T>C , CM000671.1:g.137726806T>C	GRCh37
NC_000009.10:g.136866627T>C	NCBI36
NG_008030.1:g.198155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5137-11T>C	ENSP00000360885.4:n.5137-11T>C
ENST00000371817.8:c.5137-11T>C MANE Select	ENSP00000360882.3:n.5137-11T>C
ENST00000371817.7:c.5137-11T>C	ENSP00000360882.3:n.5137-11T>C
ENST00000371820.3:c.395-11T>C
ENST00000618395.4:c.5137-11T>C	ENSP00000481360.1:n.5137-11T>C
NM_000093.4:c.5137-11T>C	NP_000084.3:n.5137-11T>C
NM_001278074.1:c.5137-11T>C	NP_001265003.1:n.5137-11T>C
NR_103451.2:n.71-14751A>G
XR_929712.1:n.5821-11T>C
XR_929713.1:n.5689-11T>C
NM_000093.5:c.5137-11T>C MANE Select	NP_000084.3:n.5137-11T>C