Canonical Allele Identifier: CA375460336

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 3230319
• ClinVar RCV Id: RCV004520470
• gnomAD v4: 9-134835005-G-C
• MyVariant Identifiers: chr9:g.137726851G>C (hg19) ; chr9:g.134835005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835005G>C , CM000671.2:g.134835005G>C	GRCh38
NC_000009.11:g.137726851G>C , CM000671.1:g.137726851G>C	GRCh37
NC_000009.10:g.136866672G>C	NCBI36
NG_008030.1:g.198200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5171G>C	ENSP00000360885.4:p.Gly1724Ala
ENST00000371817.8:c.5171G>C MANE Select	ENSP00000360882.3:p.Gly1724Ala
ENST00000371817.7:c.5171G>C	ENSP00000360882.3:p.Gly1724Ala
ENST00000371820.3:c.429G>C
ENST00000618395.4:c.5171G>C	ENSP00000481360.1:p.Gly1724Ala
NM_000093.4:c.5171G>C	NP_000084.3:p.Gly1724Ala
NM_001278074.1:c.5171G>C	NP_001265003.1:p.Gly1724Ala
NR_103451.2:n.71-14796C>G
XR_929712.1:n.5855G>C
XR_929713.1:n.5723G>C
NM_000093.5:c.5171G>C MANE Select	NP_000084.3:p.Gly1724Ala