Canonical Allele Identifier: CA281073
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17191
ClinVar RCV Id: RCV000018731 RCV002276558
dbSNP Id: rs121912933
MyVariant Identifiers: chr9:g.137666747C>T (hg19) chr9:g.134774901C>T (hg38)
PubMed: PMID:10777716
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134774901C>T , CM000671.2:g.134774901C>T GRCh38
NC_000009.11:g.137666747C>T , CM000671.1:g.137666747C>T GRCh37
NC_000009.10:g.136806568C>T NCBI36
NG_008030.1:g.138096C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.2374C>T ENSP00000360885.4:p.Arg792Ter
ENST00000371817.8:c.2374C>T MANE Select ENSP00000360882.3:p.Arg792Ter
ENST00000371817.7:c.2374C>T ENSP00000360882.3:p.Arg792Ter
ENST00000618395.4:c.2374C>T ENSP00000481360.1:p.Arg792Ter
NM_000093.4:c.2374C>T NP_000084.3:p.Arg792Ter
NM_001278074.1:c.2374C>T NP_001265003.1:p.Arg792Ter
XR_929712.1:n.2776C>T
XR_929713.1:n.2776C>T
XM_017014266.2:c.2374C>T XP_016869755.1:p.Arg792Ter
XR_001746183.1:n.2772C>T
NM_000093.5:c.2374C>T MANE Select NP_000084.3:p.Arg792Ter
Search 100 bp 5'
Search 100 bp 3'