Canonical Allele Identifier: CA2210134049

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150197G= , CM000678.2:g.16150197G=	GRCh38
NC_000016.9:g.16244054G= , CM000678.1:g.16244054G=	GRCh37
NC_000016.8:g.16151555G=	NCBI36
NG_007558.2:g.78275C=
NG_007558.3:g.78421C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4448C= MANE Select	NP_001162.5:p.Pro1483=
ENST00000205557.12:c.4448C= MANE Select	ENSP00000205557.7:p.Pro1483=
NM_001171.5:c.4448C=	NP_001162.4:p.Pro1483=
NM_001351800.1:c.4106C=	NP_001338729.1:p.Pro1369=
NR_147784.1:n.4110C=
ENST00000205557.11:c.4448C=	ENSP00000205557.7:p.Pro1483=
ENST00000456970.6:c.4073C=	ENSP00000405002.2:n.4073C=
ENST00000576204.5:n.1311C=
ENST00000622290.4:c.*1657C=	ENSP00000483331.1:n.*1657C=
ENST00000622290.5:c.*620C=	ENSP00000483331.2:n.*620C=
ENST00000640696.1:c.1262C=	ENSP00000492197.1:p.Pro421=
XM_011522479.1:c.4415C=	XP_011520781.1:p.Pro1472=
XM_011522479.2:c.4415C=	XP_011520781.1:p.Pro1472=
XM_011522480.1:c.4106C=	XP_011520782.1:p.Pro1369=
XM_011522481.1:c.4106C=	XP_011520783.1:p.Pro1369=
XM_011522481.3:c.4106C=	XP_011520783.1:p.Pro1369=
XM_017023212.1:c.4280C=	XP_016878701.1:p.Pro1427=
XM_024450261.1:c.4484C=	XP_024306029.1:p.Pro1495=
XR_933134.1:n.538+5907G=