Canonical Allele Identifier: CA2210131777

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159495C= , CM000678.2:g.16159495C=	GRCh38
NC_000016.9:g.16253352C= , CM000678.1:g.16253352C=	GRCh37
NC_000016.8:g.16160853C=	NCBI36
NG_007558.2:g.68977G=
NG_007558.3:g.69123G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3722G=	ENSP00000483331.2:p.Trp1241=
ENST00000205557.12:c.3722G= MANE Select	ENSP00000205557.7:p.Trp1241=
ENST00000640696.1:c.536G=	ENSP00000492197.1:p.Trp179=
ENST00000205557.11:c.3722G=	ENSP00000205557.7:p.Trp1241=
ENST00000456970.6:c.3347G=	ENSP00000405002.2:n.3347G=
ENST00000622290.4:c.*931G=	ENSP00000483331.1:n.*931G=
NM_001171.5:c.3722G=	NP_001162.4:p.Trp1241=
XM_011522479.1:c.3689G=	XP_011520781.1:p.Trp1230=
XM_011522480.1:c.3380G=	XP_011520782.1:p.Trp1127=
XM_011522481.1:c.3380G=	XP_011520783.1:p.Trp1127=
XR_932836.1:n.3957G=
XR_932837.1:n.3758G=
XR_932838.1:n.3758G=
XR_933134.1:n.539-286C=
NM_001351800.1:c.3380G=	NP_001338729.1:p.Trp1127=
NR_147784.1:n.3384G=
XM_011522479.2:c.3689G=	XP_011520781.1:p.Trp1230=
XM_011522481.3:c.3380G=	XP_011520783.1:p.Trp1127=
XM_017023212.1:c.3554G=	XP_016878701.1:p.Trp1185=
XM_024450261.1:c.3758G=	XP_024306029.1:p.Trp1253=
XR_932836.2:n.3903G=
XR_932837.3:n.3703G=
XR_932838.3:n.3703G=
NM_001171.6:c.3722G= MANE Select	NP_001162.5:p.Trp1241=