Canonical Allele Identifier: CA5318216

Gene: COL5A1

Linked Data

• dbSNP Id: rs747690222
• ExAC: 9:137582731 A / G
• gnomAD v2: 9-137582731-A-G
• gnomAD v4: 9-134690885-A-G
• MyVariant Identifiers: chr9:g.137582731A>G (hg19) ; chr9:g.134690885A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690885A>G , CM000671.2:g.134690885A>G	GRCh38
NC_000009.11:g.137582731A>G , CM000671.1:g.137582731A>G	GRCh37
NC_000009.10:g.136722552A>G	NCBI36
NG_008030.1:g.54080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.110-27A>G	ENSP00000360885.4:n.110-27A>G
ENST00000371817.8:c.110-27A>G MANE Select	ENSP00000360882.3:n.110-27A>G
ENST00000371817.7:c.110-27A>G	ENSP00000360882.3:n.110-27A>G
ENST00000464187.1:n.296-27A>G
ENST00000618395.4:c.110-27A>G	ENSP00000481360.1:n.110-27A>G
NM_000093.4:c.110-27A>G	NP_000084.3:n.110-27A>G
NM_001278074.1:c.110-27A>G	NP_001265003.1:n.110-27A>G
XR_929712.1:n.512-27A>G
XR_929713.1:n.512-27A>G
XM_017014266.2:c.110-27A>G	XP_016869755.1:n.110-27A>G
XR_001746183.1:n.508-27A>G
NM_000093.5:c.110-27A>G MANE Select	NP_000084.3:n.110-27A>G