Canonical Allele Identifier: CA2210135333

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150760T= , CM000678.2:g.16150760T=	GRCh38
NC_000016.9:g.16244617T= , CM000678.1:g.16244617T=	GRCh37
NC_000016.8:g.16152118T=	NCBI36
NG_007558.2:g.77712A=
NG_007558.3:g.77858A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*393A=	ENSP00000483331.2:n.*393A=
ENST00000205557.12:c.4221A= MANE Select	ENSP00000205557.7:p.Lys1407=
ENST00000640696.1:c.1035A=	ENSP00000492197.1:p.Lys345=
ENST00000205557.11:c.4221A=	ENSP00000205557.7:p.Lys1407=
ENST00000456970.6:c.3846A=	ENSP00000405002.2:n.3846A=
ENST00000576204.5:n.1084A=
ENST00000622290.4:c.*1430A=	ENSP00000483331.1:n.*1430A=
NM_001171.5:c.4221A=	NP_001162.4:p.Lys1407=
XM_011522479.1:c.4188A=	XP_011520781.1:p.Lys1396=
XM_011522480.1:c.3879A=	XP_011520782.1:p.Lys1293=
XM_011522481.1:c.3879A=	XP_011520783.1:p.Lys1293=
XR_933134.1:n.538+6470T=
NM_001351800.1:c.3879A=	NP_001338729.1:p.Lys1293=
NR_147784.1:n.3883A=
XM_011522479.2:c.4188A=	XP_011520781.1:p.Lys1396=
XM_011522481.3:c.3879A=	XP_011520783.1:p.Lys1293=
XM_017023212.1:c.4053A=	XP_016878701.1:p.Lys1351=
XM_024450261.1:c.4257A=	XP_024306029.1:p.Lys1419=
NM_001171.6:c.4221A= MANE Select	NP_001162.5:p.Lys1407=