Canonical Allele Identifier: CA319798

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134690996G>A , CM000671.2:g.134690996G>A	GRCh38
NC_000009.11:g.137582842G>A , CM000671.1:g.137582842G>A	GRCh37
NC_000009.10:g.136722663G>A	NCBI36
NG_008030.1:g.54191G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000093.5:c.194G>A MANE Select	NP_000084.3:p.Arg65Gln
ENST00000371817.8:c.194G>A MANE Select	ENSP00000360882.3:p.Arg65Gln
NM_000093.4:c.194G>A	NP_000084.3:p.Arg65Gln
NM_001278074.1:c.194G>A	NP_001265003.1:p.Arg65Gln
ENST00000371817.7:c.194G>A	ENSP00000360882.3:p.Arg65Gln
ENST00000371820.4:c.194G>A	ENSP00000360885.4:p.Arg65Gln
ENST00000464187.1:n.380G>A
ENST00000618395.4:c.194G>A	ENSP00000481360.1:p.Arg65Gln
XM_017014266.2:c.194G>A	XP_016869755.1:p.Arg65Gln
XR_001746183.1:n.592G>A
XR_929712.1:n.596G>A
XR_929713.1:n.596G>A