Canonical Allele Identifier: CA467666771
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134835009-G-A
MyVariant Identifiers: chr9:g.137726855G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835009G>A , CM000671.2:g.134835009G>A GRCh38
NC_000009.11:g.137726855G>A , CM000671.1:g.137726855G>A GRCh37
NC_000009.10:g.136866676G>A NCBI36
NG_008030.1:g.198204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5175G>A ENSP00000360885.4:p.Val1725=
ENST00000371817.8:c.5175G>A MANE Select ENSP00000360882.3:p.Val1725=
ENST00000371817.7:c.5175G>A ENSP00000360882.3:p.Val1725=
ENST00000371820.3:c.433G>A
ENST00000618395.4:c.5175G>A ENSP00000481360.1:p.Val1725=
NM_000093.4:c.5175G>A NP_000084.3:p.Val1725=
NM_001278074.1:c.5175G>A NP_001265003.1:p.Val1725=
NR_103451.2:n.71-14800C>T
XR_929712.1:n.5859G>A
XR_929713.1:n.5727G>A
NM_000093.5:c.5175G>A MANE Select NP_000084.3:p.Val1725=
Search 100 bp 5'
Search 100 bp 3'