Canonical Allele Identifier: CA2210134739

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150578C= , CM000678.2:g.16150578C=	GRCh38
NC_000016.9:g.16244435C= , CM000678.1:g.16244435C=	GRCh37
NC_000016.8:g.16151936C=	NCBI36
NG_007558.2:g.77894G=
NG_007558.3:g.78040G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*575G=	ENSP00000483331.2:n.*575G=
ENST00000205557.12:c.4403G= MANE Select	ENSP00000205557.7:p.Arg1468=
ENST00000640696.1:c.1217G=	ENSP00000492197.1:p.Arg406=
ENST00000205557.11:c.4403G=	ENSP00000205557.7:p.Arg1468=
ENST00000456970.6:c.4028G=	ENSP00000405002.2:n.4028G=
ENST00000576204.5:n.1266G=
ENST00000622290.4:c.*1612G=	ENSP00000483331.1:n.*1612G=
NM_001171.5:c.4403G=	NP_001162.4:p.Arg1468=
XM_011522479.1:c.4370G=	XP_011520781.1:p.Arg1457=
XM_011522480.1:c.4061G=	XP_011520782.1:p.Arg1354=
XM_011522481.1:c.4061G=	XP_011520783.1:p.Arg1354=
XR_933134.1:n.538+6288C=
NM_001351800.1:c.4061G=	NP_001338729.1:p.Arg1354=
NR_147784.1:n.4065G=
XM_011522479.2:c.4370G=	XP_011520781.1:p.Arg1457=
XM_011522481.3:c.4061G=	XP_011520783.1:p.Arg1354=
XM_017023212.1:c.4235G=	XP_016878701.1:p.Arg1412=
XM_024450261.1:c.4439G=	XP_024306029.1:p.Arg1480=
NM_001171.6:c.4403G= MANE Select	NP_001162.5:p.Arg1468=