Canonical Allele Identifier: CA2210134097
Community Standard Title: NM_001171.6(ABCC6):c.4434A= (p.Ala1478=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150211T= , CM000678.2:g.16150211T= GRCh38
NC_000016.9:g.16244068T= , CM000678.1:g.16244068T= GRCh37
NC_000016.8:g.16151569T= NCBI36
NG_007558.2:g.78261A=
NG_007558.3:g.78407A=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4434A= MANE Select NP_001162.5:p.Ala1478=
ENST00000205557.12:c.4434A= MANE Select ENSP00000205557.7:p.Ala1478=
NM_001171.5:c.4434A= NP_001162.4:p.Ala1478=
NM_001351800.1:c.4092A= NP_001338729.1:p.Ala1364=
NR_147784.1:n.4096A=
ENST00000205557.11:c.4434A= ENSP00000205557.7:p.Ala1478=
ENST00000456970.6:c.4059A= ENSP00000405002.2:n.4059A=
ENST00000576204.5:n.1297A=
ENST00000622290.4:c.*1643A= ENSP00000483331.1:n.*1643A=
ENST00000622290.5:c.*606A= ENSP00000483331.2:n.*606A=
ENST00000640696.1:c.1248A= ENSP00000492197.1:p.Ala416=
XM_011522479.1:c.4401A= XP_011520781.1:p.Ala1467=
XM_011522479.2:c.4401A= XP_011520781.1:p.Ala1467=
XM_011522480.1:c.4092A= XP_011520782.1:p.Ala1364=
XM_011522481.1:c.4092A= XP_011520783.1:p.Ala1364=
XM_011522481.3:c.4092A= XP_011520783.1:p.Ala1364=
XM_017023212.1:c.4266A= XP_016878701.1:p.Ala1422=
XM_024450261.1:c.4470A= XP_024306029.1:p.Ala1490=
XR_933134.1:n.538+5921T=