Canonical Allele Identifier: CA2692461762
Gene: COL5A1 HGNC NCBI

Linked Data

gnomAD v4: 9-134842362-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842362G>T , CM000671.2:g.134842362G>T GRCh38
NC_000009.11:g.137734208G>T , CM000671.1:g.137734208G>T GRCh37
NC_000009.10:g.136874029G>T NCBI36
NG_008030.1:g.205557G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*59G>T ENSP00000360885.4:n.*59G>T
ENST00000371817.8:c.*59G>T MANE Select ENSP00000360882.3:n.*59G>T
ENST00000371817.7:c.*59G>T ENSP00000360882.3:n.*59G>T
ENST00000618395.4:c.*59G>T ENSP00000481360.1:n.*59G>T
NM_000093.4:c.*59G>T NP_000084.3:n.*59G>T
NM_001278074.1:c.*59G>T NP_001265003.1:n.*59G>T
NR_103451.2:n.71-22153C>A
NM_000093.5:c.*59G>T MANE Select NP_000084.3:n.*59G>T
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