Canonical Allele Identifier: CA2806038033
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16155171T>A , CM000678.2:g.16155171T>A GRCh38
NC_000016.9:g.16249028T>A , CM000678.1:g.16249028T>A GRCh37
NC_000016.8:g.16156529T>A NCBI36
NG_007558.2:g.73301A>T
NG_007558.3:g.73447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.606A>T
ENST00000622290.5:c.*55-140A>T ENSP00000483331.2:n.*55-140A>T
ENST00000205557.12:c.3883-140A>T MANE Select ENSP00000205557.7:n.3883-140A>T
ENST00000640696.1:c.697-140A>T ENSP00000492197.1:n.697-140A>T
ENST00000205557.11:c.3883-140A>T ENSP00000205557.7:n.3883-140A>T
ENST00000456970.6:c.3508-140A>T ENSP00000405002.2:n.3508-140A>T
ENST00000576204.5:n.606A>T
ENST00000622290.4:c.*1092-140A>T ENSP00000483331.1:n.*1092-140A>T
NM_001171.5:c.3883-140A>T NP_001162.4:n.3883-140A>T
XM_011522479.1:c.3850-140A>T XP_011520781.1:n.3850-140A>T
XM_011522480.1:c.3541-140A>T XP_011520782.1:n.3541-140A>T
XM_011522481.1:c.3541-140A>T XP_011520783.1:n.3541-140A>T
XR_932836.1:n.4181-140A>T
XR_932837.1:n.3919-140A>T
XR_932838.1:n.3982-140A>T
XR_933134.1:n.539-4610T>A
NM_001351800.1:c.3541-140A>T NP_001338729.1:n.3541-140A>T
NR_147784.1:n.3545-140A>T
XM_011522479.2:c.3850-140A>T XP_011520781.1:n.3850-140A>T
XM_011522481.3:c.3541-140A>T XP_011520783.1:n.3541-140A>T
XM_017023212.1:c.3715-140A>T XP_016878701.1:n.3715-140A>T
XM_024450261.1:c.3919-140A>T XP_024306029.1:n.3919-140A>T
XR_932836.2:n.4127-140A>T
XR_932837.3:n.3864-140A>T
XR_932838.3:n.3927-140A>T
NM_001171.6:c.3883-140A>T MANE Select NP_001162.5:n.3883-140A>T