Canonical Allele Identifier: CA201114006

Gene: COL5A1

Linked Data

• dbSNP Id: rs764178662
• gnomAD v2: 9-137727118-C-T
• gnomAD v3: 9-134835272-C-T
• gnomAD v4: 9-134835272-C-T
• MyVariant Identifiers: chr9:g.137727118C>T (hg19) ; chr9:g.137727118_137727119delinsTG (hg19) ; chr9:g.134835272C>T (hg38) ; chr9:g.134835272_134835273delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835272C>T , CM000671.2:g.134835272C>T	GRCh38
NC_000009.11:g.137727118C>T , CM000671.1:g.137727118C>T	GRCh37
NC_000009.10:g.136866939C>T	NCBI36
NG_008030.1:g.198467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5370+68C>T	ENSP00000360885.4:n.5370+68C>T
ENST00000371817.8:c.5370+68C>T MANE Select	ENSP00000360882.3:n.5370+68C>T
ENST00000371817.7:c.5370+68C>T	ENSP00000360882.3:n.5370+68C>T
ENST00000618395.4:c.5370+68C>T	ENSP00000481360.1:n.5370+68C>T
NM_000093.4:c.5370+68C>T	NP_000084.3:n.5370+68C>T
NM_001278074.1:c.5370+68C>T	NP_001265003.1:n.5370+68C>T
NR_103451.2:n.71-15063G>A
NM_000093.5:c.5370+68C>T MANE Select	NP_000084.3:n.5370+68C>T