Canonical Allele Identifier: CA13040944
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1261271
ClinVar RCV Id: RCV001671672
dbSNP Id: rs12554062
gnomAD v2: 9-137733937-T-G
gnomAD v3: 9-134842091-T-G
gnomAD v4: 9-134842091-T-G
MyVariant Identifiers: chr9:g.137733937T>G (hg19) chr9:g.134842091T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842091T>G , CM000671.2:g.134842091T>G GRCh38
NC_000009.11:g.137733937T>G , CM000671.1:g.137733937T>G GRCh37
NC_000009.10:g.136873758T>G NCBI36
NG_008030.1:g.205286T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5371-66T>G ENSP00000360885.4:n.5371-66T>G
ENST00000371817.8:c.5371-66T>G MANE Select ENSP00000360882.3:n.5371-66T>G
ENST00000371817.7:c.5371-66T>G ENSP00000360882.3:n.5371-66T>G
ENST00000618395.4:c.5371-66T>G ENSP00000481360.1:n.5371-66T>G
NM_000093.4:c.5371-66T>G NP_000084.3:n.5371-66T>G
NM_001278074.1:c.5371-66T>G NP_001265003.1:n.5371-66T>G
NR_103451.2:n.71-21882A>C
NM_000093.5:c.5371-66T>G MANE Select NP_000084.3:n.5371-66T>G
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