Canonical Allele Identifier: CA375457228

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134818707C>G , CM000671.2:g.134818707C>G	GRCh38
NC_000009.11:g.137710553C>G , CM000671.1:g.137710553C>G	GRCh37
NC_000009.10:g.136850374C>G	NCBI36
NG_008030.1:g.181902C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.4282C>G MANE Select	NP_000084.3:p.Gln1428Glu
ENST00000371817.8:c.4282C>G MANE Select	ENSP00000360882.3:p.Gln1428Glu
NM_000093.4:c.4282C>G	NP_000084.3:p.Gln1428Glu
NM_001278074.1:c.4282C>G	NP_001265003.1:p.Gln1428Glu
ENST00000371817.7:c.4282C>G	ENSP00000360882.3:p.Gln1428Glu
ENST00000371820.4:c.4282C>G	ENSP00000360885.4:p.Gln1428Glu
ENST00000618395.4:c.4282C>G	ENSP00000481360.1:p.Gln1428Glu
XM_017014266.2:c.4282C>G	XP_016869755.1:p.Gln1428Glu
XR_001746183.1:n.4680C>G
XR_929712.1:n.4684C>G
XR_929713.1:n.4684C>G