Canonical Allele Identifier: CA5319449

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365717
• ClinVar RCV Id: RCV000383952 ; RCV000525069 ; RCV001764335 ; RCV002058782 ; RCV002429333 ; RCV003902426
• dbSNP Id: rs148146480
• ExAC: 9:137676905 A / G
• gnomAD v2: 9-137676905-A-G
• gnomAD v3: 9-134785059-A-G
• gnomAD v4: 9-134785059-A-G
• MyVariant Identifiers: chr9:g.137676905A>G (hg19) ; chr9:g.134785059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134785059A>G , CM000671.2:g.134785059A>G	GRCh38
NC_000009.11:g.137676905A>G , CM000671.1:g.137676905A>G	GRCh37
NC_000009.10:g.136816726A>G	NCBI36
NG_008030.1:g.148254A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.2555A>G	ENSP00000360885.4:p.Asn852Ser
ENST00000371817.8:c.2555A>G MANE Select	ENSP00000360882.3:p.Asn852Ser
ENST00000371817.7:c.2555A>G	ENSP00000360882.3:p.Asn852Ser
ENST00000618395.4:c.2555A>G	ENSP00000481360.1:p.Asn852Ser
NM_000093.4:c.2555A>G	NP_000084.3:p.Asn852Ser
NM_001278074.1:c.2555A>G	NP_001265003.1:p.Asn852Ser
XR_929712.1:n.2957A>G
XR_929713.1:n.2957A>G
XM_017014266.2:c.2555A>G	XP_016869755.1:p.Asn852Ser
XR_001746183.1:n.2953A>G
NM_000093.5:c.2555A>G MANE Select	NP_000084.3:p.Asn852Ser