Canonical Allele Identifier: CA375460319

Gene: COL5A1

Linked Data

• dbSNP Id: rs1487625448
• gnomAD v4: 9-134835001-G-A
• MyVariant Identifiers: chr9:g.137726847G>A (hg19) ; chr9:g.134835001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835001G>A , CM000671.2:g.134835001G>A	GRCh38
NC_000009.11:g.137726847G>A , CM000671.1:g.137726847G>A	GRCh37
NC_000009.10:g.136866668G>A	NCBI36
NG_008030.1:g.198196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5167G>A	ENSP00000360885.4:p.Val1723Met
ENST00000371817.8:c.5167G>A MANE Select	ENSP00000360882.3:p.Val1723Met
ENST00000371817.7:c.5167G>A	ENSP00000360882.3:p.Val1723Met
ENST00000371820.3:c.425G>A
ENST00000618395.4:c.5167G>A	ENSP00000481360.1:p.Val1723Met
NM_000093.4:c.5167G>A	NP_000084.3:p.Val1723Met
NM_001278074.1:c.5167G>A	NP_001265003.1:p.Val1723Met
NR_103451.2:n.71-14792C>T
XR_929712.1:n.5851G>A
XR_929713.1:n.5719G>A
NM_000093.5:c.5167G>A MANE Select	NP_000084.3:p.Val1723Met