Canonical Allele Identifier: CA2210134140
Community Standard Title: NM_001171.6(ABCC6):c.4420A= (p.Lys1474=)
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150225T= , CM000678.2:g.16150225T= GRCh38
NC_000016.9:g.16244082T= , CM000678.1:g.16244082T= GRCh37
NC_000016.8:g.16151583T= NCBI36
NG_007558.2:g.78247A=
NG_007558.3:g.78393A=

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.4420A= MANE Select NP_001162.5:p.Lys1474=
ENST00000205557.12:c.4420A= MANE Select ENSP00000205557.7:p.Lys1474=
NM_001171.5:c.4420A= NP_001162.4:p.Lys1474=
NM_001351800.1:c.4078A= NP_001338729.1:p.Lys1360=
NR_147784.1:n.4082A=
ENST00000205557.11:c.4420A= ENSP00000205557.7:p.Lys1474=
ENST00000456970.6:c.4045A= ENSP00000405002.2:n.4045A=
ENST00000576204.5:n.1283A=
ENST00000622290.4:c.*1629A= ENSP00000483331.1:n.*1629A=
ENST00000622290.5:c.*592A= ENSP00000483331.2:n.*592A=
ENST00000640696.1:c.1234A= ENSP00000492197.1:p.Lys412=
XM_011522479.1:c.4387A= XP_011520781.1:p.Lys1463=
XM_011522479.2:c.4387A= XP_011520781.1:p.Lys1463=
XM_011522480.1:c.4078A= XP_011520782.1:p.Lys1360=
XM_011522481.1:c.4078A= XP_011520783.1:p.Lys1360=
XM_011522481.3:c.4078A= XP_011520783.1:p.Lys1360=
XM_017023212.1:c.4252A= XP_016878701.1:p.Lys1418=
XM_024450261.1:c.4456A= XP_024306029.1:p.Lys1486=
XR_933134.1:n.538+5935T=