Canonical Allele Identifier: CA2210134932

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150644C= , CM000678.2:g.16150644C=	GRCh38
NC_000016.9:g.16244501C= , CM000678.1:g.16244501C=	GRCh37
NC_000016.8:g.16152002C=	NCBI36
NG_007558.2:g.77828G=
NG_007558.3:g.77974G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*509G=	ENSP00000483331.2:n.*509G=
ENST00000205557.12:c.4337G= MANE Select	ENSP00000205557.7:p.Ser1446=
ENST00000640696.1:c.1151G=	ENSP00000492197.1:p.Ser384=
ENST00000205557.11:c.4337G=	ENSP00000205557.7:p.Ser1446=
ENST00000456970.6:c.3962G=	ENSP00000405002.2:n.3962G=
ENST00000576204.5:n.1200G=
ENST00000622290.4:c.*1546G=	ENSP00000483331.1:n.*1546G=
NM_001171.5:c.4337G=	NP_001162.4:p.Ser1446=
XM_011522479.1:c.4304G=	XP_011520781.1:p.Ser1435=
XM_011522480.1:c.3995G=	XP_011520782.1:p.Ser1332=
XM_011522481.1:c.3995G=	XP_011520783.1:p.Ser1332=
XR_933134.1:n.538+6354C=
NM_001351800.1:c.3995G=	NP_001338729.1:p.Ser1332=
NR_147784.1:n.3999G=
XM_011522479.2:c.4304G=	XP_011520781.1:p.Ser1435=
XM_011522481.3:c.3995G=	XP_011520783.1:p.Ser1332=
XM_017023212.1:c.4169G=	XP_016878701.1:p.Ser1390=
XM_024450261.1:c.4373G=	XP_024306029.1:p.Ser1458=
NM_001171.6:c.4337G= MANE Select	NP_001162.5:p.Ser1446=