Canonical Allele Identifier: CA2210135294

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150741G= , CM000678.2:g.16150741G=	GRCh38
NC_000016.9:g.16244598G= , CM000678.1:g.16244598G=	GRCh37
NC_000016.8:g.16152099G=	NCBI36
NG_007558.2:g.77731C=
NG_007558.3:g.77877C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*412C=	ENSP00000483331.2:n.*412C=
ENST00000205557.12:c.4240C= MANE Select	ENSP00000205557.7:p.Arg1414=
ENST00000640696.1:c.1054C=	ENSP00000492197.1:p.Arg352=
ENST00000205557.11:c.4240C=	ENSP00000205557.7:p.Arg1414=
ENST00000456970.6:c.3865C=	ENSP00000405002.2:n.3865C=
ENST00000576204.5:n.1103C=
ENST00000622290.4:c.*1449C=	ENSP00000483331.1:n.*1449C=
NM_001171.5:c.4240C=	NP_001162.4:p.Arg1414=
XM_011522479.1:c.4207C=	XP_011520781.1:p.Arg1403=
XM_011522480.1:c.3898C=	XP_011520782.1:p.Arg1300=
XM_011522481.1:c.3898C=	XP_011520783.1:p.Arg1300=
XR_933134.1:n.538+6451G=
NM_001351800.1:c.3898C=	NP_001338729.1:p.Arg1300=
NR_147784.1:n.3902C=
XM_011522479.2:c.4207C=	XP_011520781.1:p.Arg1403=
XM_011522481.3:c.3898C=	XP_011520783.1:p.Arg1300=
XM_017023212.1:c.4072C=	XP_016878701.1:p.Arg1358=
XM_024450261.1:c.4276C=	XP_024306029.1:p.Arg1426=
NM_001171.6:c.4240C= MANE Select	NP_001162.5:p.Arg1414=