Canonical Allele Identifier: CA201114225
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 669767
ClinVar RCV Id: RCV000828865
dbSNP Id: rs542725585
gnomAD v2: 9-137727329-G-T
gnomAD v3: 9-134835483-G-T
gnomAD v4: 9-134835483-G-T
MyVariant Identifiers: chr9:g.137727329G>T (hg19) chr9:g.134835483G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835483G>T , CM000671.2:g.134835483G>T GRCh38
NC_000009.11:g.137727329G>T , CM000671.1:g.137727329G>T GRCh37
NC_000009.10:g.136867150G>T NCBI36
NG_008030.1:g.198678G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5370+279G>T ENSP00000360885.4:n.5370+279G>T
ENST00000371817.8:c.5370+279G>T MANE Select ENSP00000360882.3:n.5370+279G>T
ENST00000371817.7:c.5370+279G>T ENSP00000360882.3:n.5370+279G>T
ENST00000618395.4:c.5370+279G>T ENSP00000481360.1:n.5370+279G>T
NM_000093.4:c.5370+279G>T NP_000084.3:n.5370+279G>T
NM_001278074.1:c.5370+279G>T NP_001265003.1:n.5370+279G>T
NR_103451.2:n.71-15274C>A
NM_000093.5:c.5370+279G>T MANE Select NP_000084.3:n.5370+279G>T
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