Canonical Allele Identifier: CA375460363

Gene: COL5A1

Linked Data

• dbSNP Id: rs1839797629
• gnomAD v3: 9-134835013-C-T
• gnomAD v4: 9-134835013-C-T
• MyVariant Identifiers: chr9:g.137726859C>T (hg19) ; chr9:g.134835013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835013C>T , CM000671.2:g.134835013C>T	GRCh38
NC_000009.11:g.137726859C>T , CM000671.1:g.137726859C>T	GRCh37
NC_000009.10:g.136866680C>T	NCBI36
NG_008030.1:g.198208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5179C>T	ENSP00000360885.4:p.Gln1727Ter
ENST00000371817.8:c.5179C>T MANE Select	ENSP00000360882.3:p.Gln1727Ter
ENST00000371817.7:c.5179C>T	ENSP00000360882.3:p.Gln1727Ter
ENST00000371820.3:c.437C>T
ENST00000618395.4:c.5179C>T	ENSP00000481360.1:p.Gln1727Ter
NM_000093.4:c.5179C>T	NP_000084.3:p.Gln1727Ter
NM_001278074.1:c.5179C>T	NP_001265003.1:p.Gln1727Ter
NR_103451.2:n.71-14804G>A
XR_929712.1:n.5863C>T
XR_929713.1:n.5731C>T
NM_000093.5:c.5179C>T MANE Select	NP_000084.3:p.Gln1727Ter