Canonical Allele Identifier: CA16605684
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384907
ClinVar RCV Id: RCV000430534 RCV002230262
dbSNP Id: rs753245063
gnomAD v4: 9-134835147-C-T
MyVariant Identifiers: chr9:g.137726993C>T (hg19) chr9:g.134835147C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835147C>T , CM000671.2:g.134835147C>T GRCh38
NC_000009.11:g.137726993C>T , CM000671.1:g.137726993C>T GRCh37
NC_000009.10:g.136866814C>T NCBI36
NG_008030.1:g.198342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5313C>T ENSP00000360885.4:p.Asp1771=
ENST00000371817.8:c.5313C>T MANE Select ENSP00000360882.3:p.Asp1771=
ENST00000371817.7:c.5313C>T ENSP00000360882.3:p.Asp1771=
ENST00000371820.3:c.571C>T
ENST00000618395.4:c.5313C>T ENSP00000481360.1:p.Asp1771=
NM_000093.4:c.5313C>T NP_000084.3:p.Asp1771=
NM_001278074.1:c.5313C>T NP_001265003.1:p.Asp1771=
NR_103451.2:n.71-14938G>A
NM_000093.5:c.5313C>T MANE Select NP_000084.3:p.Asp1771=
Search 100 bp 5'
Search 100 bp 3'