Canonical Allele Identifier: CA2210141072
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155019C= , CM000678.2:g.16155019C= GRCh38
NC_000016.9:g.16248876C= , CM000678.1:g.16248876C= GRCh37
NC_000016.8:g.16156377C= NCBI36
NG_007558.2:g.73453G=
NG_007558.3:g.73599G=

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.758G=
ENST00000622290.5:c.*67G= ENSP00000483331.2:n.*67G=
ENST00000205557.12:c.3895G= MANE Select ENSP00000205557.7:p.Gly1299=
ENST00000640696.1:c.709G= ENSP00000492197.1:p.Gly237=
ENST00000205557.11:c.3895G= ENSP00000205557.7:p.Gly1299=
ENST00000456970.6:c.3520G= ENSP00000405002.2:n.3520G=
ENST00000576204.5:n.758G=
ENST00000622290.4:c.*1104G= ENSP00000483331.1:n.*1104G=
NM_001171.5:c.3895G= NP_001162.4:p.Gly1299=
XM_011522479.1:c.3862G= XP_011520781.1:p.Gly1288=
XM_011522480.1:c.3553G= XP_011520782.1:p.Gly1185=
XM_011522481.1:c.3553G= XP_011520783.1:p.Gly1185=
XR_932836.1:n.4193G=
XR_932837.1:n.3931G=
XR_932838.1:n.3994G=
XR_933134.1:n.539-4762C=
NM_001351800.1:c.3553G= NP_001338729.1:p.Gly1185=
NR_147784.1:n.3557G=
XM_011522479.2:c.3862G= XP_011520781.1:p.Gly1288=
XM_011522481.3:c.3553G= XP_011520783.1:p.Gly1185=
XM_017023212.1:c.3727G= XP_016878701.1:p.Gly1243=
XM_024450261.1:c.3931G= XP_024306029.1:p.Gly1311=
XR_932836.2:n.4139G=
XR_932837.3:n.3876G=
XR_932838.3:n.3939G=
NM_001171.6:c.3895G= MANE Select NP_001162.5:p.Gly1299=