Canonical Allele Identifier: CA2210143261

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169719G= , CM000678.2:g.16169719G=	GRCh38
NC_000016.9:g.16263576G= , CM000678.1:g.16263576G=	GRCh37
NC_000016.8:g.16171077G=	NCBI36
NG_007558.2:g.58753C=
NG_007558.3:g.58899C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2922C=	ENSP00000483331.2:p.Asp974=
ENST00000205557.12:c.2922C= MANE Select	ENSP00000205557.7:p.Asp974=
ENST00000205557.11:c.2922C=	ENSP00000205557.7:p.Asp974=
ENST00000456970.6:c.2747C=	ENSP00000405002.2:n.2747C=
ENST00000622290.4:c.*131C=	ENSP00000483331.1:n.*131C=
NM_001171.5:c.2922C=	NP_001162.4:p.Asp974=
XM_011522479.1:c.2889C=	XP_011520781.1:p.Asp963=
XM_011522480.1:c.2580C=	XP_011520782.1:p.Asp860=
XM_011522481.1:c.2580C=	XP_011520783.1:p.Asp860=
XR_932836.1:n.3157C=
XR_932837.1:n.3158C=
XR_932838.1:n.3158C=
NM_001351800.1:c.2580C=	NP_001338729.1:p.Asp860=
NR_147784.1:n.2784C=
XM_011522479.2:c.2889C=	XP_011520781.1:p.Asp963=
XM_011522481.3:c.2580C=	XP_011520783.1:p.Asp860=
XM_017023212.1:c.2754C=	XP_016878701.1:p.Asp918=
XM_017023214.1:c.2922C=	XP_016878703.1:p.Asp974=
XM_024450261.1:c.2958C=	XP_024306029.1:p.Asp986=
XR_932836.2:n.3103C=
XR_932837.3:n.3103C=
XR_932838.3:n.3103C=
NM_001171.6:c.2922C= MANE Select	NP_001162.5:p.Asp974=