Canonical Allele Identifier: CA324593
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212936
ClinVar RCV Id: RCV000200041 RCV002228841 RCV002399718 RCV003323438 RCV003224216
dbSNP Id: rs369000939
ExAC: 9:137642661 C / T
gnomAD v2: 9-137642661-C-T
gnomAD v3: 9-134750815-C-T
gnomAD v4: 9-134750815-C-T
MyVariant Identifiers: chr9:g.137642661C>T (hg19) chr9:g.134750815C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750815C>T , CM000671.2:g.134750815C>T GRCh38
NC_000009.11:g.137642661C>T , CM000671.1:g.137642661C>T GRCh37
NC_000009.10:g.136782482C>T NCBI36
NG_008030.1:g.114010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1595C>T ENSP00000360885.4:p.Ala532Val
ENST00000371817.8:c.1595C>T MANE Select ENSP00000360882.3:p.Ala532Val
ENST00000371817.7:c.1595C>T ENSP00000360882.3:p.Ala532Val
ENST00000618395.4:c.1595C>T ENSP00000481360.1:p.Ala532Val
NM_000093.4:c.1595C>T NP_000084.3:p.Ala532Val
NM_001278074.1:c.1595C>T NP_001265003.1:p.Ala532Val
XR_929712.1:n.1997C>T
XR_929713.1:n.1997C>T
XM_017014266.2:c.1595C>T XP_016869755.1:p.Ala532Val
XR_001746183.1:n.1993C>T
NM_000093.5:c.1595C>T MANE Select NP_000084.3:p.Ala532Val
Search 100 bp 5'
Search 100 bp 3'