Canonical Allele Identifier: CA321201

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 213068
• ClinVar RCV Id: RCV000196786
• dbSNP Id: rs763026096
• MyVariant Identifiers: chr9:g.137582805G>C (hg19) ; chr9:g.134690959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690959G>C , CM000671.2:g.134690959G>C	GRCh38
NC_000009.11:g.137582805G>C , CM000671.1:g.137582805G>C	GRCh37
NC_000009.10:g.136722626G>C	NCBI36
NG_008030.1:g.54154G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.157G>C	ENSP00000360885.4:p.Asp53His
ENST00000371817.8:c.157G>C MANE Select	ENSP00000360882.3:p.Asp53His
ENST00000371817.7:c.157G>C	ENSP00000360882.3:p.Asp53His
ENST00000464187.1:n.343G>C
ENST00000618395.4:c.157G>C	ENSP00000481360.1:p.Asp53His
NM_000093.4:c.157G>C	NP_000084.3:p.Asp53His
NM_001278074.1:c.157G>C	NP_001265003.1:p.Asp53His
XR_929712.1:n.559G>C
XR_929713.1:n.559G>C
XM_017014266.2:c.157G>C	XP_016869755.1:p.Asp53His
XR_001746183.1:n.555G>C
NM_000093.5:c.157G>C MANE Select	NP_000084.3:p.Asp53His