Canonical Allele Identifier: CA375461755
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137734021A>G (hg19) chr9:g.134842175A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842175A>G , CM000671.2:g.134842175A>G GRCh38
NC_000009.11:g.137734021A>G , CM000671.1:g.137734021A>G GRCh37
NC_000009.10:g.136873842A>G NCBI36
NG_008030.1:g.205370A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5389A>G ENSP00000360885.4:p.Lys1797Glu
ENST00000371817.8:c.5389A>G MANE Select ENSP00000360882.3:p.Lys1797Glu
ENST00000371817.7:c.5389A>G ENSP00000360882.3:p.Lys1797Glu
ENST00000618395.4:c.5389A>G ENSP00000481360.1:p.Lys1797Glu
NM_000093.4:c.5389A>G NP_000084.3:p.Lys1797Glu
NM_001278074.1:c.5389A>G NP_001265003.1:p.Lys1797Glu
NR_103451.2:n.71-21966T>C
NM_000093.5:c.5389A>G MANE Select NP_000084.3:p.Lys1797Glu
Search 100 bp 5'
Search 100 bp 3'