Canonical Allele Identifier: CA375462048
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1978671
ClinVar RCV Id: RCV002775117
MyVariant Identifiers: chr9:g.137734108A>C (hg19) chr9:g.134842262A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842262A>C , CM000671.2:g.134842262A>C GRCh38
NC_000009.11:g.137734108A>C , CM000671.1:g.137734108A>C GRCh37
NC_000009.10:g.136873929A>C NCBI36
NG_008030.1:g.205457A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5476A>C ENSP00000360885.4:p.Lys1826Gln
ENST00000371817.8:c.5476A>C MANE Select ENSP00000360882.3:p.Lys1826Gln
ENST00000371817.7:c.5476A>C ENSP00000360882.3:p.Lys1826Gln
ENST00000618395.4:c.5476A>C ENSP00000481360.1:p.Lys1826Gln
NM_000093.4:c.5476A>C NP_000084.3:p.Lys1826Gln
NM_001278074.1:c.5476A>C NP_001265003.1:p.Lys1826Gln
NR_103451.2:n.71-22053T>G
NM_000093.5:c.5476A>C MANE Select NP_000084.3:p.Lys1826Gln
Search 100 bp 5'
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