Canonical Allele Identifier: CA1883339038

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134731522G= , CM000671.2:g.134731522G=	GRCh38
NC_000009.11:g.137623368G= , CM000671.1:g.137623368G=	GRCh37
NC_000009.10:g.136763189G=	NCBI36
NG_008030.1:g.94717G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1191G=	ENSP00000360885.4:p.Ala397=
ENST00000371817.8:c.1191G= MANE Select	ENSP00000360882.3:p.Ala397=
ENST00000371817.7:c.1191G=	ENSP00000360882.3:p.Ala397=
ENST00000618395.4:c.1191G=	ENSP00000481360.1:p.Ala397=
NM_000093.4:c.1191G=	NP_000084.3:p.Ala397=
NM_001278074.1:c.1191G=	NP_001265003.1:p.Ala397=
XR_929712.1:n.1593G=
XR_929713.1:n.1593G=
XM_017014266.2:c.1191G=	XP_016869755.1:p.Ala397=
XR_001746183.1:n.1589G=
NM_000093.5:c.1191G= MANE Select	NP_000084.3:p.Ala397=