Canonical Allele Identifier: CA2210140652

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154785G= , CM000678.2:g.16154785G=	GRCh38
NC_000016.9:g.16248642G= , CM000678.1:g.16248642G=	GRCh37
NC_000016.8:g.16156143G=	NCBI36
NG_007558.2:g.73687C=
NG_007558.3:g.73833C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.914C=
ENST00000622290.5:c.*223C=	ENSP00000483331.2:n.*223C=
ENST00000205557.12:c.4051C= MANE Select	ENSP00000205557.7:p.Leu1351=
ENST00000640696.1:c.865C=	ENSP00000492197.1:p.Leu289=
ENST00000205557.11:c.4051C=	ENSP00000205557.7:p.Leu1351=
ENST00000456970.6:c.3676C=	ENSP00000405002.2:n.3676C=
ENST00000576204.5:n.914C=
ENST00000622290.4:c.*1260C=	ENSP00000483331.1:n.*1260C=
NM_001171.5:c.4051C=	NP_001162.4:p.Leu1351=
XM_011522479.1:c.4018C=	XP_011520781.1:p.Leu1340=
XM_011522480.1:c.3709C=	XP_011520782.1:p.Leu1237=
XM_011522481.1:c.3709C=	XP_011520783.1:p.Leu1237=
XR_933134.1:n.539-4996G=
NM_001351800.1:c.3709C=	NP_001338729.1:p.Leu1237=
NR_147784.1:n.3713C=
XM_011522479.2:c.4018C=	XP_011520781.1:p.Leu1340=
XM_011522481.3:c.3709C=	XP_011520783.1:p.Leu1237=
XM_017023212.1:c.3883C=	XP_016878701.1:p.Leu1295=
XM_024450261.1:c.4087C=	XP_024306029.1:p.Leu1363=
NM_001171.6:c.4051C= MANE Select	NP_001162.5:p.Leu1351=