Canonical Allele Identifier: CA5320682

Gene: COL5A1

Linked Data

• dbSNP Id: rs760300314
• ExAC: 9:137726965 A / G
• gnomAD v2: 9-137726965-A-G
• gnomAD v4: 9-134835119-A-G
• MyVariant Identifiers: chr9:g.137726965A>G (hg19) ; chr9:g.134835119A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835119A>G , CM000671.2:g.134835119A>G	GRCh38
NC_000009.11:g.137726965A>G , CM000671.1:g.137726965A>G	GRCh37
NC_000009.10:g.136866786A>G	NCBI36
NG_008030.1:g.198314A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5285A>G	ENSP00000360885.4:p.Lys1762Arg
ENST00000371817.8:c.5285A>G MANE Select	ENSP00000360882.3:p.Lys1762Arg
ENST00000371817.7:c.5285A>G	ENSP00000360882.3:p.Lys1762Arg
ENST00000371820.3:c.543A>G
ENST00000618395.4:c.5285A>G	ENSP00000481360.1:p.Lys1762Arg
NM_000093.4:c.5285A>G	NP_000084.3:p.Lys1762Arg
NM_001278074.1:c.5285A>G	NP_001265003.1:p.Lys1762Arg
NR_103451.2:n.71-14910T>C
NM_000093.5:c.5285A>G MANE Select	NP_000084.3:p.Lys1762Arg