Canonical Allele Identifier: CA5320708

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 517975
• ClinVar RCV Id: RCV000609007
• dbSNP Id: rs370535777
• ExAC: 9:137727068 C / T
• gnomAD v2: 9-137727068-C-T
• gnomAD v3: 9-134835222-C-T
• gnomAD v4: 9-134835222-C-T
• MyVariant Identifiers: chr9:g.137727068C>T (hg19) ; chr9:g.134835222C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835222C>T , CM000671.2:g.134835222C>T	GRCh38
NC_000009.11:g.137727068C>T , CM000671.1:g.137727068C>T	GRCh37
NC_000009.10:g.136866889C>T	NCBI36
NG_008030.1:g.198417C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5370+18C>T	ENSP00000360885.4:n.5370+18C>T
ENST00000371817.8:c.5370+18C>T MANE Select	ENSP00000360882.3:n.5370+18C>T
ENST00000371817.7:c.5370+18C>T	ENSP00000360882.3:n.5370+18C>T
ENST00000618395.4:c.5370+18C>T	ENSP00000481360.1:n.5370+18C>T
NM_000093.4:c.5370+18C>T	NP_000084.3:n.5370+18C>T
NM_001278074.1:c.5370+18C>T	NP_001265003.1:n.5370+18C>T
NR_103451.2:n.71-15013G>A
NM_000093.5:c.5370+18C>T MANE Select	NP_000084.3:n.5370+18C>T