Canonical Allele Identifier: CA2692461558

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134834882-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134834882G>T , CM000671.2:g.134834882G>T	GRCh38
NC_000009.11:g.137726728G>T , CM000671.1:g.137726728G>T	GRCh37
NC_000009.10:g.136866549G>T	NCBI36
NG_008030.1:g.198077G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371820.4:c.5137-89G>T	ENSP00000360885.4:n.5137-89G>T
ENST00000371817.8:c.5137-89G>T MANE Select	ENSP00000360882.3:n.5137-89G>T
ENST00000371817.7:c.5137-89G>T	ENSP00000360882.3:n.5137-89G>T
ENST00000371820.3:c.395-89G>T
ENST00000618395.4:c.5137-89G>T	ENSP00000481360.1:n.5137-89G>T
NM_000093.4:c.5137-89G>T	NP_000084.3:n.5137-89G>T
NM_001278074.1:c.5137-89G>T	NP_001265003.1:n.5137-89G>T
NR_103451.2:n.71-14673C>A
XR_929712.1:n.5821-89G>T
XR_929713.1:n.5689-89G>T
XM_017014266.2:c.*2129G>T	XP_016869755.1:n.*2129G>T
XR_001746183.1:n.7807G>T
NM_000093.5:c.5137-89G>T MANE Select	NP_000084.3:n.5137-89G>T