Canonical Allele Identifier: CA1129894562
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830144878
gnomAD v3: 9-134842835-G-A
gnomAD v4: 9-134842835-G-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842835G>A , CM000671.2:g.134842835G>A GRCh38
NC_000009.11:g.137734681G>A , CM000671.1:g.137734681G>A GRCh37
NC_000009.10:g.136874502G>A NCBI36
NG_008030.1:g.206030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*532G>A ENSP00000360885.4:n.*532G>A
ENST00000371817.8:c.*532G>A MANE Select ENSP00000360882.3:n.*532G>A
ENST00000371817.7:c.*532G>A ENSP00000360882.3:n.*532G>A
ENST00000618395.4:c.*532G>A ENSP00000481360.1:n.*532G>A
NM_000093.4:c.*532G>A NP_000084.3:n.*532G>A
NM_001278074.1:c.*532G>A NP_001265003.1:n.*532G>A
NR_103451.2:n.71-22626C>T
NM_000093.5:c.*532G>A MANE Select NP_000084.3:n.*532G>A
Search 100 bp 5'
Search 100 bp 3'