Canonical Allele Identifier: CA2210152346
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16198026A= , CM000678.2:g.16198026A= GRCh38
NC_000016.9:g.16291883A= , CM000678.1:g.16291883A= GRCh37
NC_000016.8:g.16199384A= NCBI36
NG_007558.2:g.30446T=
NG_007558.3:g.30592T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1333T= ENSP00000507301.1:p.Trp445=
ENST00000622290.5:c.1333T= ENSP00000483331.2:p.Trp445=
ENST00000205557.12:c.1333T= MANE Select ENSP00000205557.7:p.Trp445=
ENST00000205557.11:c.1333T= ENSP00000205557.7:p.Trp445=
ENST00000456970.6:c.1333T= ENSP00000405002.2:p.Trp445=
ENST00000574094.5:n.1429T=
ENST00000622290.4:c.1333T= ENSP00000483331.1:p.Trp445=
NM_001171.5:c.1333T= NP_001162.4:p.Trp445=
XM_011522479.1:c.1333T= XP_011520781.1:p.Trp445=
XM_011522480.1:c.991T= XP_011520782.1:p.Trp331=
XM_011522481.1:c.991T= XP_011520783.1:p.Trp331=
XM_011522482.1:c.1333T= XP_011520784.1:p.Trp445=
XR_932836.1:n.1568T=
XR_932837.1:n.1569T=
XR_932838.1:n.1569T=
NM_001351800.1:c.991T= NP_001338729.1:p.Trp331=
NR_147784.1:n.1370T=
XM_011522479.2:c.1333T= XP_011520781.1:p.Trp445=
XM_011522481.3:c.991T= XP_011520783.1:p.Trp331=
XM_011522482.3:c.1333T= XP_011520784.1:p.Trp445=
XM_017023212.1:c.1333T= XP_016878701.1:p.Trp445=
XM_017023214.1:c.1333T= XP_016878703.1:p.Trp445=
XM_024450261.1:c.1369T= XP_024306029.1:p.Trp457=
XR_932836.2:n.1514T=
XR_932837.3:n.1514T=
XR_932838.3:n.1514T=
NM_001171.6:c.1333T= MANE Select NP_001162.5:p.Trp445=