Canonical Allele Identifier: CA591117526
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1334588467
gnomAD v2: 9-137734735-T-C
MyVariant Identifiers: chr9:g.137734735T>C (hg19) chr9:g.134842889T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842889T>C , CM000671.2:g.134842889T>C GRCh38
NC_000009.11:g.137734735T>C , CM000671.1:g.137734735T>C GRCh37
NC_000009.10:g.136874556T>C NCBI36
NG_008030.1:g.206084T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*586T>C ENSP00000360885.4:n.*586T>C
ENST00000371817.8:c.*586T>C MANE Select ENSP00000360882.3:n.*586T>C
ENST00000371817.7:c.*586T>C ENSP00000360882.3:n.*586T>C
ENST00000618395.4:c.*586T>C ENSP00000481360.1:n.*586T>C
NM_000093.4:c.*586T>C NP_000084.3:n.*586T>C
NM_001278074.1:c.*586T>C NP_001265003.1:n.*586T>C
NR_103451.2:n.71-22680A>G
NM_000093.5:c.*586T>C MANE Select NP_000084.3:n.*586T>C
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