Canonical Allele Identifier: CA2210131927

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159535T= , CM000678.2:g.16159535T=	GRCh38
NC_000016.9:g.16253392T= , CM000678.1:g.16253392T=	GRCh37
NC_000016.8:g.16160893T=	NCBI36
NG_007558.2:g.68937A=
NG_007558.3:g.69083A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3682A=	ENSP00000483331.2:p.Asn1228=
ENST00000205557.12:c.3682A= MANE Select	ENSP00000205557.7:p.Asn1228=
ENST00000640696.1:c.496A=	ENSP00000492197.1:p.Asn166=
ENST00000205557.11:c.3682A=	ENSP00000205557.7:p.Asn1228=
ENST00000456970.6:c.3307A=	ENSP00000405002.2:n.3307A=
ENST00000622290.4:c.*891A=	ENSP00000483331.1:n.*891A=
NM_001171.5:c.3682A=	NP_001162.4:p.Asn1228=
XM_011522479.1:c.3649A=	XP_011520781.1:p.Asn1217=
XM_011522480.1:c.3340A=	XP_011520782.1:p.Asn1114=
XM_011522481.1:c.3340A=	XP_011520783.1:p.Asn1114=
XR_932836.1:n.3917A=
XR_932837.1:n.3718A=
XR_932838.1:n.3718A=
XR_933134.1:n.539-246T=
NM_001351800.1:c.3340A=	NP_001338729.1:p.Asn1114=
NR_147784.1:n.3344A=
XM_011522479.2:c.3649A=	XP_011520781.1:p.Asn1217=
XM_011522481.3:c.3340A=	XP_011520783.1:p.Asn1114=
XM_017023212.1:c.3514A=	XP_016878701.1:p.Asn1172=
XM_024450261.1:c.3718A=	XP_024306029.1:p.Asn1240=
XR_932836.2:n.3863A=
XR_932837.3:n.3663A=
XR_932838.3:n.3663A=
NM_001171.6:c.3682A= MANE Select	NP_001162.5:p.Asn1228=