Canonical Allele Identifier: CA5318510

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134727350G>A , CM000671.2:g.134727350G>A	GRCh38
NC_000009.11:g.137619196G>A , CM000671.1:g.137619196G>A	GRCh37
NC_000009.10:g.136759017G>A	NCBI36
NG_008030.1:g.90545G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.739G>A MANE Select	NP_000084.3:p.Ala247Thr
ENST00000371817.8:c.739G>A MANE Select	ENSP00000360882.3:p.Ala247Thr
NM_000093.4:c.739G>A	NP_000084.3:p.Ala247Thr
NM_001278074.1:c.739G>A	NP_001265003.1:p.Ala247Thr
ENST00000371817.7:c.739G>A	ENSP00000360882.3:p.Ala247Thr
ENST00000371820.4:c.739G>A	ENSP00000360885.4:p.Ala247Thr
ENST00000618395.4:c.739G>A	ENSP00000481360.1:p.Ala247Thr
XM_017014266.2:c.739G>A	XP_016869755.1:p.Ala247Thr
XR_001746183.1:n.1137G>A
XR_929712.1:n.1141G>A
XR_929713.1:n.1141G>A