Canonical Allele Identifier: CA201120985

Gene: COL5A1

Linked Data

• dbSNP Id: rs994568641
• gnomAD v3: 9-134843496-A-T
• gnomAD v4: 9-134843496-A-T
• MyVariant Identifiers: chr9:g.137735342A>T (hg19) ; chr9:g.134843496A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843496A>T , CM000671.2:g.134843496A>T	GRCh38
NC_000009.11:g.137735342A>T , CM000671.1:g.137735342A>T	GRCh37
NC_000009.10:g.136875163A>T	NCBI36
NG_008030.1:g.206691A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1193A>T	ENSP00000360885.4:n.*1193A>T
ENST00000371817.8:c.*1193A>T MANE Select	ENSP00000360882.3:n.*1193A>T
ENST00000371817.7:c.*1193A>T	ENSP00000360882.3:n.*1193A>T
ENST00000618395.4:c.*1193A>T	ENSP00000481360.1:n.*1193A>T
NM_000093.4:c.*1193A>T	NP_000084.3:n.*1193A>T
NM_001278074.1:c.*1193A>T	NP_001265003.1:n.*1193A>T
NR_103451.2:n.71-23287T>A
NM_000093.5:c.*1193A>T MANE Select	NP_000084.3:n.*1193A>T