Canonical Allele Identifier: CA375456895

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134817831G>T , CM000671.2:g.134817831G>T	GRCh38
NC_000009.11:g.137709677G>T , CM000671.1:g.137709677G>T	GRCh37
NC_000009.10:g.136849498G>T	NCBI36
NG_008030.1:g.181026G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4230G>T	ENSP00000360885.4:p.Lys1410Asn
ENST00000371817.8:c.4230G>T MANE Select	ENSP00000360882.3:p.Lys1410Asn
ENST00000371817.7:c.4230G>T	ENSP00000360882.3:p.Lys1410Asn
ENST00000618395.4:c.4230G>T	ENSP00000481360.1:p.Lys1410Asn
NM_000093.4:c.4230G>T	NP_000084.3:p.Lys1410Asn
NM_001278074.1:c.4230G>T	NP_001265003.1:p.Lys1410Asn
XR_929712.1:n.4632G>T
XR_929713.1:n.4632G>T
XM_017014266.2:c.4230G>T	XP_016869755.1:p.Lys1410Asn
XR_001746183.1:n.4628G>T
NM_000093.5:c.4230G>T MANE Select	NP_000084.3:p.Lys1410Asn