Canonical Allele Identifier: CA2210143308

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169798A= , CM000678.2:g.16169798A=	GRCh38
NC_000016.9:g.16263655A= , CM000678.1:g.16263655A=	GRCh37
NC_000016.8:g.16171156A=	NCBI36
NG_007558.2:g.58674T=
NG_007558.3:g.58820T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2843T=	ENSP00000483331.2:p.Leu948=
ENST00000205557.12:c.2843T= MANE Select	ENSP00000205557.7:p.Leu948=
ENST00000205557.11:c.2843T=	ENSP00000205557.7:p.Leu948=
ENST00000456970.6:c.2668T=	ENSP00000405002.2:n.2668T=
ENST00000622290.4:c.*52T=	ENSP00000483331.1:n.*52T=
NM_001171.5:c.2843T=	NP_001162.4:p.Leu948=
XM_011522479.1:c.2810T=	XP_011520781.1:p.Leu937=
XM_011522480.1:c.2501T=	XP_011520782.1:p.Leu834=
XM_011522481.1:c.2501T=	XP_011520783.1:p.Leu834=
XR_932836.1:n.3078T=
XR_932837.1:n.3079T=
XR_932838.1:n.3079T=
NM_001351800.1:c.2501T=	NP_001338729.1:p.Leu834=
NR_147784.1:n.2705T=
XM_011522479.2:c.2810T=	XP_011520781.1:p.Leu937=
XM_011522481.3:c.2501T=	XP_011520783.1:p.Leu834=
XM_017023212.1:c.2675T=	XP_016878701.1:p.Leu892=
XM_017023214.1:c.2843T=	XP_016878703.1:p.Leu948=
XM_024450261.1:c.2879T=	XP_024306029.1:p.Leu960=
XR_932836.2:n.3024T=
XR_932837.3:n.3024T=
XR_932838.3:n.3024T=
NM_001171.6:c.2843T= MANE Select	NP_001162.5:p.Leu948=