Canonical Allele Identifier: CA5320737
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs773975277
ExAC: 9:137734015 T / C
gnomAD v2: 9-137734015-T-C
gnomAD v4: 9-134842169-T-C
MyVariant Identifiers: chr9:g.137734015T>C (hg19) chr9:g.134842169T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842169T>C , CM000671.2:g.134842169T>C GRCh38
NC_000009.11:g.137734015T>C , CM000671.1:g.137734015T>C GRCh37
NC_000009.10:g.136873836T>C NCBI36
NG_008030.1:g.205364T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5383T>C ENSP00000360885.4:p.Tyr1795His
ENST00000371817.8:c.5383T>C MANE Select ENSP00000360882.3:p.Tyr1795His
ENST00000371817.7:c.5383T>C ENSP00000360882.3:p.Tyr1795His
ENST00000618395.4:c.5383T>C ENSP00000481360.1:p.Tyr1795His
NM_000093.4:c.5383T>C NP_000084.3:p.Tyr1795His
NM_001278074.1:c.5383T>C NP_001265003.1:p.Tyr1795His
NR_103451.2:n.71-21960A>G
NM_000093.5:c.5383T>C MANE Select NP_000084.3:p.Tyr1795His
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