Canonical Allele Identifier: CA290296

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134823454A>C , CM000671.2:g.134823454A>C	GRCh38
NC_000009.11:g.137715300A>C , CM000671.1:g.137715300A>C	GRCh37
NC_000009.10:g.136855121A>C	NCBI36
NG_008030.1:g.186649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4683A>C	ENSP00000360885.4:p.Gly1561=
ENST00000371817.8:c.4683A>C MANE Select	ENSP00000360882.3:p.Gly1561=
ENST00000371817.7:c.4683A>C	ENSP00000360882.3:p.Gly1561=
ENST00000460264.5:n.151A>C
ENST00000618395.4:c.4683A>C	ENSP00000481360.1:p.Gly1561=
NM_000093.4:c.4683A>C	NP_000084.3:p.Gly1561=
NM_001278074.1:c.4683A>C	NP_001265003.1:p.Gly1561=
NR_103451.2:n.71-3245T>G
XR_929712.1:n.5085A>C
XR_929713.1:n.5085A>C
XM_017014266.2:c.4683A>C	XP_016869755.1:p.Gly1561=
XR_001746183.1:n.5081A>C
NM_000093.5:c.4683A>C MANE Select	NP_000084.3:p.Gly1561=