Canonical Allele Identifier: CA2210140469

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154654C= , CM000678.2:g.16154654C=	GRCh38
NC_000016.9:g.16248511C= , CM000678.1:g.16248511C=	GRCh37
NC_000016.8:g.16156012C=	NCBI36
NG_007558.2:g.73818G=
NG_007558.3:g.73964G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*354G=	ENSP00000483331.2:n.*354G=
ENST00000205557.12:c.4182G= MANE Select	ENSP00000205557.7:p.Lys1394=
ENST00000640696.1:c.996G=	ENSP00000492197.1:p.Lys332=
ENST00000205557.11:c.4182G=	ENSP00000205557.7:p.Lys1394=
ENST00000456970.6:c.3807G=	ENSP00000405002.2:n.3807G=
ENST00000576204.5:n.1045G=
ENST00000622290.4:c.*1391G=	ENSP00000483331.1:n.*1391G=
NM_001171.5:c.4182G=	NP_001162.4:p.Lys1394=
XM_011522479.1:c.4149G=	XP_011520781.1:p.Lys1383=
XM_011522480.1:c.3840G=	XP_011520782.1:p.Lys1280=
XM_011522481.1:c.3840G=	XP_011520783.1:p.Lys1280=
XR_933134.1:n.539-5127C=
NM_001351800.1:c.3840G=	NP_001338729.1:p.Lys1280=
NR_147784.1:n.3844G=
XM_011522479.2:c.4149G=	XP_011520781.1:p.Lys1383=
XM_011522481.3:c.3840G=	XP_011520783.1:p.Lys1280=
XM_017023212.1:c.4014G=	XP_016878701.1:p.Lys1338=
XM_024450261.1:c.4218G=	XP_024306029.1:p.Lys1406=
NM_001171.6:c.4182G= MANE Select	NP_001162.5:p.Lys1394=