Canonical Allele Identifier: CA2692462753
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843453G>T , CM000671.2:g.134843453G>T GRCh38
NC_000009.11:g.137735299G>T , CM000671.1:g.137735299G>T GRCh37
NC_000009.10:g.136875120G>T NCBI36
NG_008030.1:g.206648G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1150G>T ENSP00000360885.4:n.*1150G>T
ENST00000371817.8:c.*1150G>T MANE Select ENSP00000360882.3:n.*1150G>T
ENST00000371817.7:c.*1150G>T ENSP00000360882.3:n.*1150G>T
ENST00000618395.4:c.*1150G>T ENSP00000481360.1:n.*1150G>T
NM_000093.4:c.*1150G>T NP_000084.3:n.*1150G>T
NM_001278074.1:c.*1150G>T NP_001265003.1:n.*1150G>T
NR_103451.2:n.71-23244C>A
NM_000093.5:c.*1150G>T MANE Select NP_000084.3:n.*1150G>T