Canonical Allele Identifier: CA201113767

Gene: COL5A1

Linked Data

• dbSNP Id: rs955493186
• gnomAD v2: 9-137726866-C-A
• gnomAD v3: 9-134835020-C-A
• gnomAD v4: 9-134835020-C-A
• MyVariant Identifiers: chr9:g.137726866C>A (hg19) ; chr9:g.134835020C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835020C>A , CM000671.2:g.134835020C>A	GRCh38
NC_000009.11:g.137726866C>A , CM000671.1:g.137726866C>A	GRCh37
NC_000009.10:g.136866687C>A	NCBI36
NG_008030.1:g.198215C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5186C>A	ENSP00000360885.4:p.Thr1729Asn
ENST00000371817.8:c.5186C>A MANE Select	ENSP00000360882.3:p.Thr1729Asn
ENST00000371817.7:c.5186C>A	ENSP00000360882.3:p.Thr1729Asn
ENST00000371820.3:c.444C>A
ENST00000618395.4:c.5186C>A	ENSP00000481360.1:p.Thr1729Asn
NM_000093.4:c.5186C>A	NP_000084.3:p.Thr1729Asn
NM_001278074.1:c.5186C>A	NP_001265003.1:p.Thr1729Asn
NR_103451.2:n.71-14811G>T
XR_929712.1:n.5870C>A
XR_929713.1:n.5738C>A
NM_000093.5:c.5186C>A MANE Select	NP_000084.3:p.Thr1729Asn