Canonical Allele Identifier: CA2210143230

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169659G= , CM000678.2:g.16169659G=	GRCh38
NC_000016.9:g.16263516G= , CM000678.1:g.16263516G=	GRCh37
NC_000016.8:g.16171017G=	NCBI36
NG_007558.2:g.58813C=
NG_007558.3:g.58959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2982C=	ENSP00000483331.2:p.Leu994=
ENST00000205557.12:c.2982C= MANE Select	ENSP00000205557.7:p.Leu994=
ENST00000205557.11:c.2982C=	ENSP00000205557.7:p.Leu994=
ENST00000456970.6:c.2807C=	ENSP00000405002.2:n.2807C=
ENST00000622290.4:c.*191C=	ENSP00000483331.1:n.*191C=
NM_001171.5:c.2982C=	NP_001162.4:p.Leu994=
XM_011522479.1:c.2949C=	XP_011520781.1:p.Leu983=
XM_011522480.1:c.2640C=	XP_011520782.1:p.Leu880=
XM_011522481.1:c.2640C=	XP_011520783.1:p.Leu880=
XR_932836.1:n.3217C=
XR_932837.1:n.3218C=
XR_932838.1:n.3218C=
NM_001351800.1:c.2640C=	NP_001338729.1:p.Leu880=
NR_147784.1:n.2844C=
XM_011522479.2:c.2949C=	XP_011520781.1:p.Leu983=
XM_011522481.3:c.2640C=	XP_011520783.1:p.Leu880=
XM_017023212.1:c.2814C=	XP_016878701.1:p.Leu938=
XM_017023214.1:c.2982C=	XP_016878703.1:p.Leu994=
XM_024450261.1:c.3018C=	XP_024306029.1:p.Leu1006=
XR_932836.2:n.3163C=
XR_932837.3:n.3163C=
XR_932838.3:n.3163C=
NM_001171.6:c.2982C= MANE Select	NP_001162.5:p.Leu994=