Canonical Allele Identifier: CA5318235
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1387767
ClinVar RCV Id: RCV001884222
dbSNP Id: rs376115028
ExAC: 9:137582862 G / A
gnomAD v2: 9-137582862-G-A
gnomAD v4: 9-134691016-G-A
MyVariant Identifiers: chr9:g.137582862G>A (hg19) chr9:g.134691016G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134691016G>A , CM000671.2:g.134691016G>A GRCh38
NC_000009.11:g.137582862G>A , CM000671.1:g.137582862G>A GRCh37
NC_000009.10:g.136722683G>A NCBI36
NG_008030.1:g.54211G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.214G>A ENSP00000360885.4:p.Asp72Asn
ENST00000371817.8:c.214G>A MANE Select ENSP00000360882.3:p.Asp72Asn
ENST00000371817.7:c.214G>A ENSP00000360882.3:p.Asp72Asn
ENST00000464187.1:n.400G>A
ENST00000618395.4:c.214G>A ENSP00000481360.1:p.Asp72Asn
NM_000093.4:c.214G>A NP_000084.3:p.Asp72Asn
NM_001278074.1:c.214G>A NP_001265003.1:p.Asp72Asn
XR_929712.1:n.616G>A
XR_929713.1:n.616G>A
XM_017014266.2:c.214G>A XP_016869755.1:p.Asp72Asn
XR_001746183.1:n.612G>A
NM_000093.5:c.214G>A MANE Select NP_000084.3:p.Asp72Asn
Search 100 bp 5'
Search 100 bp 3'