Canonical Allele Identifier: CA2210135311

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150751C= , CM000678.2:g.16150751C=	GRCh38
NC_000016.9:g.16244608C= , CM000678.1:g.16244608C=	GRCh37
NC_000016.8:g.16152109C=	NCBI36
NG_007558.2:g.77721G=
NG_007558.3:g.77867G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*402G=	ENSP00000483331.2:n.*402G=
ENST00000205557.12:c.4230G= MANE Select	ENSP00000205557.7:p.Leu1410=
ENST00000640696.1:c.1044G=	ENSP00000492197.1:p.Leu348=
ENST00000205557.11:c.4230G=	ENSP00000205557.7:p.Leu1410=
ENST00000456970.6:c.3855G=	ENSP00000405002.2:n.3855G=
ENST00000576204.5:n.1093G=
ENST00000622290.4:c.*1439G=	ENSP00000483331.1:n.*1439G=
NM_001171.5:c.4230G=	NP_001162.4:p.Leu1410=
XM_011522479.1:c.4197G=	XP_011520781.1:p.Leu1399=
XM_011522480.1:c.3888G=	XP_011520782.1:p.Leu1296=
XM_011522481.1:c.3888G=	XP_011520783.1:p.Leu1296=
XR_933134.1:n.538+6461C=
NM_001351800.1:c.3888G=	NP_001338729.1:p.Leu1296=
NR_147784.1:n.3892G=
XM_011522479.2:c.4197G=	XP_011520781.1:p.Leu1399=
XM_011522481.3:c.3888G=	XP_011520783.1:p.Leu1296=
XM_017023212.1:c.4062G=	XP_016878701.1:p.Leu1354=
XM_024450261.1:c.4266G=	XP_024306029.1:p.Leu1422=
NM_001171.6:c.4230G= MANE Select	NP_001162.5:p.Leu1410=