Canonical Allele Identifier: CA5320780
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365737
dbSNP Id: rs374547961

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842345C>G , CM000671.2:g.134842345C>G GRCh38
NC_000009.11:g.137734191C>G , CM000671.1:g.137734191C>G GRCh37
NC_000009.10:g.136874012C>G NCBI36
NG_008030.1:g.205540C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*42C>G ENSP00000360885.4:n.*42C>G
ENST00000371817.8:c.*42C>G MANE Select ENSP00000360882.3:n.*42C>G
ENST00000371817.7:c.*42C>G ENSP00000360882.3:n.*42C>G
ENST00000618395.4:c.*42C>G ENSP00000481360.1:n.*42C>G
NM_000093.4:c.*42C>G NP_000084.3:n.*42C>G
NM_001278074.1:c.*42C>G NP_001265003.1:n.*42C>G
NR_103451.2:n.71-22136G>C
NM_000093.5:c.*42C>G MANE Select NP_000084.3:n.*42C>G