Canonical Allele Identifier: CA1129869526

Gene: COL5A1

Linked Data

• dbSNP Id: rs1833252290
• gnomAD v3: 9-134690837-C-T
• gnomAD v4: 9-134690837-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690837C>T , CM000671.2:g.134690837C>T	GRCh38
NC_000009.11:g.137582683C>T , CM000671.1:g.137582683C>T	GRCh37
NC_000009.10:g.136722504C>T	NCBI36
NG_008030.1:g.54032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.110-75C>T	ENSP00000360885.4:n.110-75C>T
ENST00000371817.8:c.110-75C>T MANE Select	ENSP00000360882.3:n.110-75C>T
ENST00000371817.7:c.110-75C>T	ENSP00000360882.3:n.110-75C>T
ENST00000464187.1:n.296-75C>T
ENST00000618395.4:c.110-75C>T	ENSP00000481360.1:n.110-75C>T
NM_000093.4:c.110-75C>T	NP_000084.3:n.110-75C>T
NM_001278074.1:c.110-75C>T	NP_001265003.1:n.110-75C>T
XR_929712.1:n.512-75C>T
XR_929713.1:n.512-75C>T
XM_017014266.2:c.110-75C>T	XP_016869755.1:n.110-75C>T
XR_001746183.1:n.508-75C>T
NM_000093.5:c.110-75C>T MANE Select	NP_000084.3:n.110-75C>T