Canonical Allele Identifier: CA375460340
Gene: COL5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.137726853G>C (hg19) chr9:g.134835007G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835007G>C , CM000671.2:g.134835007G>C GRCh38
NC_000009.11:g.137726853G>C , CM000671.1:g.137726853G>C GRCh37
NC_000009.10:g.136866674G>C NCBI36
NG_008030.1:g.198202G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5173G>C ENSP00000360885.4:p.Val1725Leu
ENST00000371817.8:c.5173G>C MANE Select ENSP00000360882.3:p.Val1725Leu
ENST00000371817.7:c.5173G>C ENSP00000360882.3:p.Val1725Leu
ENST00000371820.3:c.431G>C
ENST00000618395.4:c.5173G>C ENSP00000481360.1:p.Val1725Leu
NM_000093.4:c.5173G>C NP_000084.3:p.Val1725Leu
NM_001278074.1:c.5173G>C NP_001265003.1:p.Val1725Leu
NR_103451.2:n.71-14798C>G
XR_929712.1:n.5857G>C
XR_929713.1:n.5725G>C
NM_000093.5:c.5173G>C MANE Select NP_000084.3:p.Val1725Leu
Search 100 bp 5'
Search 100 bp 3'