Canonical Allele Identifier: CA2210141028

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154995A= , CM000678.2:g.16154995A=	GRCh38
NC_000016.9:g.16248852A= , CM000678.1:g.16248852A=	GRCh37
NC_000016.8:g.16156353A=	NCBI36
NG_007558.2:g.73477T=
NG_007558.3:g.73623T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.782T=
ENST00000622290.5:c.*91T=	ENSP00000483331.2:n.*91T=
ENST00000205557.12:c.3919T= MANE Select	ENSP00000205557.7:p.Ser1307=
ENST00000640696.1:c.733T=	ENSP00000492197.1:p.Ser245=
ENST00000205557.11:c.3919T=	ENSP00000205557.7:p.Ser1307=
ENST00000456970.6:c.3544T=	ENSP00000405002.2:n.3544T=
ENST00000576204.5:n.782T=
ENST00000622290.4:c.*1128T=	ENSP00000483331.1:n.*1128T=
NM_001171.5:c.3919T=	NP_001162.4:p.Ser1307=
XM_011522479.1:c.3886T=	XP_011520781.1:p.Ser1296=
XM_011522480.1:c.3577T=	XP_011520782.1:p.Ser1193=
XM_011522481.1:c.3577T=	XP_011520783.1:p.Ser1193=
XR_932836.1:n.4217T=
XR_932837.1:n.3955T=
XR_932838.1:n.4018T=
XR_933134.1:n.539-4786A=
NM_001351800.1:c.3577T=	NP_001338729.1:p.Ser1193=
NR_147784.1:n.3581T=
XM_011522479.2:c.3886T=	XP_011520781.1:p.Ser1296=
XM_011522481.3:c.3577T=	XP_011520783.1:p.Ser1193=
XM_017023212.1:c.3751T=	XP_016878701.1:p.Ser1251=
XM_024450261.1:c.3955T=	XP_024306029.1:p.Ser1319=
XR_932836.2:n.4163T=
XR_932837.3:n.3900T=
XR_932838.3:n.3963T=
NM_001171.6:c.3919T= MANE Select	NP_001162.5:p.Ser1307=