Canonical Allele Identifier: CA2692451100

Gene: COL5A1

Linked Data

• dbSNP Id: rs2132550651
• gnomAD v4: 9-134690833-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690833C>G , CM000671.2:g.134690833C>G	GRCh38
NC_000009.11:g.137582679C>G , CM000671.1:g.137582679C>G	GRCh37
NC_000009.10:g.136722500C>G	NCBI36
NG_008030.1:g.54028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.110-79C>G	ENSP00000360885.4:n.110-79C>G
ENST00000371817.8:c.110-79C>G MANE Select	ENSP00000360882.3:n.110-79C>G
ENST00000371817.7:c.110-79C>G	ENSP00000360882.3:n.110-79C>G
ENST00000464187.1:n.296-79C>G
ENST00000618395.4:c.110-79C>G	ENSP00000481360.1:n.110-79C>G
NM_000093.4:c.110-79C>G	NP_000084.3:n.110-79C>G
NM_001278074.1:c.110-79C>G	NP_001265003.1:n.110-79C>G
XR_929712.1:n.512-79C>G
XR_929713.1:n.512-79C>G
XM_017014266.2:c.110-79C>G	XP_016869755.1:n.110-79C>G
XR_001746183.1:n.508-79C>G
NM_000093.5:c.110-79C>G MANE Select	NP_000084.3:n.110-79C>G