Canonical Allele Identifier: CA16618786
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 423890
ClinVar RCV Id: RCV000483216
dbSNP Id: rs1064796684
MyVariant Identifiers: chr9:g.137623510G>T (hg19) chr9:g.134731664G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731664G>T , CM000671.2:g.134731664G>T GRCh38
NC_000009.11:g.137623510G>T , CM000671.1:g.137623510G>T GRCh37
NC_000009.10:g.136763331G>T NCBI36
NG_008030.1:g.94859G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.1332+1G>T ENSP00000360885.4:n.1332+1G>T
ENST00000371817.8:c.1332+1G>T MANE Select ENSP00000360882.3:n.1332+1G>T
ENST00000371817.7:c.1332+1G>T ENSP00000360882.3:n.1332+1G>T
ENST00000469093.1:n.71+1G>T
ENST00000618395.4:c.1332+1G>T ENSP00000481360.1:n.1332+1G>T
NM_000093.4:c.1332+1G>T NP_000084.3:n.1332+1G>T
NM_001278074.1:c.1332+1G>T NP_001265003.1:n.1332+1G>T
XR_929712.1:n.1734+1G>T
XR_929713.1:n.1734+1G>T
XM_017014266.2:c.1332+1G>T XP_016869755.1:n.1332+1G>T
XR_001746183.1:n.1730+1G>T
NM_000093.5:c.1332+1G>T MANE Select NP_000084.3:n.1332+1G>T
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