Canonical Allele Identifier: CA2210135158
Community Standard Title: NM_001171.6(ABCC6):c.4271T= (p.Ile1424=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150710A= , CM000678.2:g.16150710A= GRCh38
NC_000016.9:g.16244567A= , CM000678.1:g.16244567A= GRCh37
NC_000016.8:g.16152068A= NCBI36
NG_007558.2:g.77762T=
NG_007558.3:g.77908T=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4271T= MANE Select NP_001162.5:p.Ile1424=
ENST00000205557.12:c.4271T= MANE Select ENSP00000205557.7:p.Ile1424=
NM_001171.5:c.4271T= NP_001162.4:p.Ile1424=
NM_001351800.1:c.3929T= NP_001338729.1:p.Ile1310=
NR_147784.1:n.3933T=
ENST00000205557.11:c.4271T= ENSP00000205557.7:p.Ile1424=
ENST00000456970.6:c.3896T= ENSP00000405002.2:n.3896T=
ENST00000576204.5:n.1134T=
ENST00000622290.4:c.*1480T= ENSP00000483331.1:n.*1480T=
ENST00000622290.5:c.*443T= ENSP00000483331.2:n.*443T=
ENST00000640696.1:c.1085T= ENSP00000492197.1:p.Ile362=
XM_011522479.1:c.4238T= XP_011520781.1:p.Ile1413=
XM_011522479.2:c.4238T= XP_011520781.1:p.Ile1413=
XM_011522480.1:c.3929T= XP_011520782.1:p.Ile1310=
XM_011522481.1:c.3929T= XP_011520783.1:p.Ile1310=
XM_011522481.3:c.3929T= XP_011520783.1:p.Ile1310=
XM_017023212.1:c.4103T= XP_016878701.1:p.Ile1368=
XM_024450261.1:c.4307T= XP_024306029.1:p.Ile1436=
XR_933134.1:n.538+6420A=