Canonical Allele Identifier: CA2210133949

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150152T= , CM000678.2:g.16150152T=	GRCh38
NC_000016.9:g.16244009T= , CM000678.1:g.16244009T=	GRCh37
NC_000016.8:g.16151510T=	NCBI36
NG_007558.2:g.78320A=
NG_007558.3:g.78466A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*665A=	ENSP00000483331.2:n.*665A=
ENST00000205557.12:c.4493A= MANE Select	ENSP00000205557.7:p.Gln1498=
ENST00000640696.1:c.1307A=	ENSP00000492197.1:p.Gln436=
ENST00000205557.11:c.4493A=	ENSP00000205557.7:p.Gln1498=
ENST00000456970.6:c.4118A=	ENSP00000405002.2:n.4118A=
ENST00000576204.5:n.1356A=
ENST00000622290.4:c.*1702A=	ENSP00000483331.1:n.*1702A=
NM_001171.5:c.4493A=	NP_001162.4:p.Gln1498=
XM_011522479.1:c.4460A=	XP_011520781.1:p.Gln1487=
XM_011522480.1:c.4151A=	XP_011520782.1:p.Gln1384=
XM_011522481.1:c.4151A=	XP_011520783.1:p.Gln1384=
XR_933134.1:n.538+5862T=
NM_001351800.1:c.4151A=	NP_001338729.1:p.Gln1384=
NR_147784.1:n.4155A=
XM_011522479.2:c.4460A=	XP_011520781.1:p.Gln1487=
XM_011522481.3:c.4151A=	XP_011520783.1:p.Gln1384=
XM_017023212.1:c.4325A=	XP_016878701.1:p.Gln1442=
XM_024450261.1:c.4529A=	XP_024306029.1:p.Gln1510=
NM_001171.6:c.4493A= MANE Select	NP_001162.5:p.Gln1498=