Canonical Allele Identifier: CA1883314358

Gene: COL5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134700048C= , CM000671.2:g.134700048C=	GRCh38
NC_000009.11:g.137591894C= , CM000671.1:g.137591894C=	GRCh37
NC_000009.10:g.136731715C=	NCBI36
NG_008030.1:g.63243C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.417C=	ENSP00000360885.4:p.Leu139=
ENST00000371817.8:c.417C= MANE Select	ENSP00000360882.3:p.Leu139=
ENST00000371817.7:c.417C=	ENSP00000360882.3:p.Leu139=
ENST00000464187.1:n.839C=
ENST00000618395.4:c.417C=	ENSP00000481360.1:p.Leu139=
NM_000093.4:c.417C=	NP_000084.3:p.Leu139=
NM_001278074.1:c.417C=	NP_001265003.1:p.Leu139=
XR_929712.1:n.819C=
XR_929713.1:n.819C=
XM_017014266.2:c.417C=	XP_016869755.1:p.Leu139=
XR_001746183.1:n.815C=
NM_000093.5:c.417C= MANE Select	NP_000084.3:p.Leu139=