Canonical Allele Identifier: CA201120747
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs181005600
gnomAD v2: 9-137734986-T-G
gnomAD v3: 9-134843140-T-G
gnomAD v4: 9-134843140-T-G
MyVariant Identifiers: chr9:g.137734986T>G (hg19) chr9:g.134843140T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843140T>G , CM000671.2:g.134843140T>G GRCh38
NC_000009.11:g.137734986T>G , CM000671.1:g.137734986T>G GRCh37
NC_000009.10:g.136874807T>G NCBI36
NG_008030.1:g.206335T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*837T>G ENSP00000360885.4:n.*837T>G
ENST00000371817.8:c.*837T>G MANE Select ENSP00000360882.3:n.*837T>G
ENST00000371817.7:c.*837T>G ENSP00000360882.3:n.*837T>G
ENST00000618395.4:c.*837T>G ENSP00000481360.1:n.*837T>G
NM_000093.4:c.*837T>G NP_000084.3:n.*837T>G
NM_001278074.1:c.*837T>G NP_001265003.1:n.*837T>G
NR_103451.2:n.71-22931A>C
NM_000093.5:c.*837T>G MANE Select NP_000084.3:n.*837T>G
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