Canonical Allele Identifier: CA2210133927

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150143C= , CM000678.2:g.16150143C=	GRCh38
NC_000016.9:g.16244000C= , CM000678.1:g.16244000C=	GRCh37
NC_000016.8:g.16151501C=	NCBI36
NG_007558.2:g.78329G=
NG_007558.3:g.78475G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*674G=	ENSP00000483331.2:n.*674G=
ENST00000205557.12:c.4502G= MANE Select	ENSP00000205557.7:p.Gly1501=
ENST00000640696.1:c.1316G=	ENSP00000492197.1:p.Gly439=
ENST00000205557.11:c.4502G=	ENSP00000205557.7:p.Gly1501=
ENST00000456970.6:c.4127G=	ENSP00000405002.2:n.4127G=
ENST00000576204.5:n.1365G=
ENST00000622290.4:c.*1711G=	ENSP00000483331.1:n.*1711G=
NM_001171.5:c.4502G=	NP_001162.4:p.Gly1501=
XM_011522479.1:c.4469G=	XP_011520781.1:p.Gly1490=
XM_011522480.1:c.4160G=	XP_011520782.1:p.Gly1387=
XM_011522481.1:c.4160G=	XP_011520783.1:p.Gly1387=
XR_933134.1:n.538+5853C=
NM_001351800.1:c.4160G=	NP_001338729.1:p.Gly1387=
NR_147784.1:n.4164G=
XM_011522479.2:c.4469G=	XP_011520781.1:p.Gly1490=
XM_011522481.3:c.4160G=	XP_011520783.1:p.Gly1387=
XM_017023212.1:c.4334G=	XP_016878701.1:p.Gly1445=
XM_024450261.1:c.4538G=	XP_024306029.1:p.Gly1513=
NM_001171.6:c.4502G= MANE Select	NP_001162.5:p.Gly1501=