Canonical Allele Identifier: CA860893746

Gene: COL5A1

Linked Data

• dbSNP Id: rs1342274905
• gnomAD v3: 9-134843034-C-T
• gnomAD v4: 9-134843034-C-T
• MyVariant Identifiers: chr9:g.137734880C>T (hg19) ; chr9:g.134843034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843034C>T , CM000671.2:g.134843034C>T	GRCh38
NC_000009.11:g.137734880C>T , CM000671.1:g.137734880C>T	GRCh37
NC_000009.10:g.136874701C>T	NCBI36
NG_008030.1:g.206229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*731C>T	ENSP00000360885.4:n.*731C>T
ENST00000371817.8:c.*731C>T MANE Select	ENSP00000360882.3:n.*731C>T
ENST00000371817.7:c.*731C>T	ENSP00000360882.3:n.*731C>T
ENST00000618395.4:c.*731C>T	ENSP00000481360.1:n.*731C>T
NM_000093.4:c.*731C>T	NP_000084.3:n.*731C>T
NM_001278074.1:c.*731C>T	NP_001265003.1:n.*731C>T
NR_103451.2:n.71-22825G>A
NM_000093.5:c.*731C>T MANE Select	NP_000084.3:n.*731C>T