Canonical Allele Identifier: CA3217477076
Community Standard Title: NM_001171.6(ABCC6):c.3364T= (p.Ser1122=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16163135A= , CM000678.2:g.16163135A= GRCh38
NC_000016.9:g.16256992A= , CM000678.1:g.16256992A= GRCh37
NC_000016.8:g.16164493A= NCBI36
NG_007558.2:g.65337T=
NG_007558.3:g.65483T=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3364T= MANE Select NP_001162.5:p.Ser1122=
ENST00000205557.12:c.3364T= MANE Select ENSP00000205557.7:p.Ser1122=
NM_001171.5:c.3364T= NP_001162.4:p.Ser1122=
NM_001351800.1:c.3022T= NP_001338729.1:p.Ser1008=
NR_147784.1:n.3169-1571T=
ENST00000205557.11:c.3364T= ENSP00000205557.7:p.Ser1122=
ENST00000456970.6:c.3132-1571T= ENSP00000405002.2:n.3132-1571T=
ENST00000622290.4:c.*573T= ENSP00000483331.1:n.*573T=
ENST00000622290.5:c.3364T= ENSP00000483331.2:p.Ser1122=
ENST00000640696.1:c.321-1571T= ENSP00000492197.1:n.321-1571T=
XM_011522479.1:c.3331T= XP_011520781.1:p.Ser1111=
XM_011522479.2:c.3331T= XP_011520781.1:p.Ser1111=
XM_011522480.1:c.3022T= XP_011520782.1:p.Ser1008=
XM_011522481.1:c.3022T= XP_011520783.1:p.Ser1008=
XM_011522481.3:c.3022T= XP_011520783.1:p.Ser1008=
XM_017023212.1:c.3196T= XP_016878701.1:p.Ser1066=
XM_017023214.1:c.3307-1571T= XP_016878703.1:n.3307-1571T=
XM_024450261.1:c.3400T= XP_024306029.1:p.Ser1134=
XR_932836.1:n.3599T=
XR_932836.2:n.3545T=
XR_932837.1:n.3543-1571T=
XR_932837.3:n.3488-1571T=
XR_932838.1:n.3543-1571T=
XR_932838.3:n.3488-1571T=
XR_933133.1:n.407+292A=
XR_933134.1:n.754+292A=