Canonical Allele Identifier: CA2210131688
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16159476C= , CM000678.2:g.16159476C= GRCh38
NC_000016.9:g.16253333C= , CM000678.1:g.16253333C= GRCh37
NC_000016.8:g.16160834C= NCBI36
NG_007558.2:g.68996G=
NG_007558.3:g.69142G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622290.5:c.3735+6G= ENSP00000483331.2:n.3735+6G=
ENST00000205557.12:c.3735+6G= MANE Select ENSP00000205557.7:n.3735+6G=
ENST00000640696.1:c.549+6G= ENSP00000492197.1:n.549+6G=
ENST00000205557.11:c.3735+6G= ENSP00000205557.7:n.3735+6G=
ENST00000456970.6:c.3360+6G= ENSP00000405002.2:n.3360+6G=
ENST00000622290.4:c.*944+6G= ENSP00000483331.1:n.*944+6G=
NM_001171.5:c.3735+6G= NP_001162.4:n.3735+6G=
XM_011522479.1:c.3702+6G= XP_011520781.1:n.3702+6G=
XM_011522480.1:c.3393+6G= XP_011520782.1:n.3393+6G=
XM_011522481.1:c.3393+6G= XP_011520783.1:n.3393+6G=
XR_932836.1:n.3970+6G=
XR_932837.1:n.3771+6G=
XR_932838.1:n.3771+6G=
XR_933134.1:n.539-305C=
NM_001351800.1:c.3393+6G= NP_001338729.1:n.3393+6G=
NR_147784.1:n.3397+6G=
XM_011522479.2:c.3702+6G= XP_011520781.1:n.3702+6G=
XM_011522481.3:c.3393+6G= XP_011520783.1:n.3393+6G=
XM_017023212.1:c.3567+6G= XP_016878701.1:n.3567+6G=
XM_024450261.1:c.3771+6G= XP_024306029.1:n.3771+6G=
XR_932836.2:n.3916+6G=
XR_932837.3:n.3716+6G=
XR_932838.3:n.3716+6G=
NM_001171.6:c.3735+6G= MANE Select NP_001162.5:n.3735+6G=