Canonical Allele Identifier: CA375451085

Gene: COL5A1

Linked Data

• dbSNP Id: rs1357936877
• gnomAD v2: 9-137623459-T-A
• gnomAD v4: 9-134731613-T-A
• MyVariant Identifiers: chr9:g.137623459T>A (hg19) ; chr9:g.134731613T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731613T>A , CM000671.2:g.134731613T>A	GRCh38
NC_000009.11:g.137623459T>A , CM000671.1:g.137623459T>A	GRCh37
NC_000009.10:g.136763280T>A	NCBI36
NG_008030.1:g.94808T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1282T>A	ENSP00000360885.4:p.Ser428Thr
ENST00000371817.8:c.1282T>A MANE Select	ENSP00000360882.3:p.Ser428Thr
ENST00000371817.7:c.1282T>A	ENSP00000360882.3:p.Ser428Thr
ENST00000469093.1:n.21T>A
ENST00000618395.4:c.1282T>A	ENSP00000481360.1:p.Ser428Thr
NM_000093.4:c.1282T>A	NP_000084.3:p.Ser428Thr
NM_001278074.1:c.1282T>A	NP_001265003.1:p.Ser428Thr
XR_929712.1:n.1684T>A
XR_929713.1:n.1684T>A
XM_017014266.2:c.1282T>A	XP_016869755.1:p.Ser428Thr
XR_001746183.1:n.1680T>A
NM_000093.5:c.1282T>A MANE Select	NP_000084.3:p.Ser428Thr