Canonical Allele Identifier: CA2210143258

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169714G= , CM000678.2:g.16169714G=	GRCh38
NC_000016.9:g.16263571G= , CM000678.1:g.16263571G=	GRCh37
NC_000016.8:g.16171072G=	NCBI36
NG_007558.2:g.58758C=
NG_007558.3:g.58904C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2927C=	ENSP00000483331.2:p.Ala976=
ENST00000205557.12:c.2927C= MANE Select	ENSP00000205557.7:p.Ala976=
ENST00000205557.11:c.2927C=	ENSP00000205557.7:p.Ala976=
ENST00000456970.6:c.2752C=	ENSP00000405002.2:n.2752C=
ENST00000622290.4:c.*136C=	ENSP00000483331.1:n.*136C=
NM_001171.5:c.2927C=	NP_001162.4:p.Ala976=
XM_011522479.1:c.2894C=	XP_011520781.1:p.Ala965=
XM_011522480.1:c.2585C=	XP_011520782.1:p.Ala862=
XM_011522481.1:c.2585C=	XP_011520783.1:p.Ala862=
XR_932836.1:n.3162C=
XR_932837.1:n.3163C=
XR_932838.1:n.3163C=
NM_001351800.1:c.2585C=	NP_001338729.1:p.Ala862=
NR_147784.1:n.2789C=
XM_011522479.2:c.2894C=	XP_011520781.1:p.Ala965=
XM_011522481.3:c.2585C=	XP_011520783.1:p.Ala862=
XM_017023212.1:c.2759C=	XP_016878701.1:p.Ala920=
XM_017023214.1:c.2927C=	XP_016878703.1:p.Ala976=
XM_024450261.1:c.2963C=	XP_024306029.1:p.Ala988=
XR_932836.2:n.3108C=
XR_932837.3:n.3108C=
XR_932838.3:n.3108C=
NM_001171.6:c.2927C= MANE Select	NP_001162.5:p.Ala976=