Canonical Allele Identifier: CA5320738
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs762192018
ExAC: 9:137734020 G / C
gnomAD v2: 9-137734020-G-C
gnomAD v3: 9-134842174-G-C
gnomAD v4: 9-134842174-G-C
MyVariant Identifiers: chr9:g.137734020G>C (hg19) chr9:g.134842174G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842174G>C , CM000671.2:g.134842174G>C GRCh38
NC_000009.11:g.137734020G>C , CM000671.1:g.137734020G>C GRCh37
NC_000009.10:g.136873841G>C NCBI36
NG_008030.1:g.205369G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5388G>C ENSP00000360885.4:p.Gln1796His
ENST00000371817.8:c.5388G>C MANE Select ENSP00000360882.3:p.Gln1796His
ENST00000371817.7:c.5388G>C ENSP00000360882.3:p.Gln1796His
ENST00000618395.4:c.5388G>C ENSP00000481360.1:p.Gln1796His
NM_000093.4:c.5388G>C NP_000084.3:p.Gln1796His
NM_001278074.1:c.5388G>C NP_001265003.1:p.Gln1796His
NR_103451.2:n.71-21965C>G
NM_000093.5:c.5388G>C MANE Select NP_000084.3:p.Gln1796His
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