Canonical Allele Identifier: CA2692461568

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134834889-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834889A>G , CM000671.2:g.134834889A>G	GRCh38
NC_000009.11:g.137726735A>G , CM000671.1:g.137726735A>G	GRCh37
NC_000009.10:g.136866556A>G	NCBI36
NG_008030.1:g.198084A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-82A>G	ENSP00000360885.4:n.5137-82A>G
ENST00000371817.8:c.5137-82A>G MANE Select	ENSP00000360882.3:n.5137-82A>G
ENST00000371817.7:c.5137-82A>G	ENSP00000360882.3:n.5137-82A>G
ENST00000371820.3:c.395-82A>G
ENST00000618395.4:c.5137-82A>G	ENSP00000481360.1:n.5137-82A>G
NM_000093.4:c.5137-82A>G	NP_000084.3:n.5137-82A>G
NM_001278074.1:c.5137-82A>G	NP_001265003.1:n.5137-82A>G
NR_103451.2:n.71-14680T>C
XR_929712.1:n.5821-82A>G
XR_929713.1:n.5689-82A>G
XM_017014266.2:c.*2136A>G	XP_016869755.1:n.*2136A>G
XR_001746183.1:n.7814A>G
NM_000093.5:c.5137-82A>G MANE Select	NP_000084.3:n.5137-82A>G