Canonical Allele Identifier: CA394875583
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154919T>A , CM000678.2:g.16154919T>A GRCh38
NC_000016.9:g.16248776T>A , CM000678.1:g.16248776T>A GRCh37
NC_000016.8:g.16156277T>A NCBI36
NG_007558.2:g.73553A>T
NG_007558.3:g.73699A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.858A>T
ENST00000622290.5:c.*167A>T ENSP00000483331.2:n.*167A>T
ENST00000205557.12:c.3995A>T MANE Select ENSP00000205557.7:p.His1332Leu
ENST00000640696.1:c.809A>T ENSP00000492197.1:p.His270Leu
ENST00000205557.11:c.3995A>T ENSP00000205557.7:p.His1332Leu
ENST00000456970.6:c.3620A>T ENSP00000405002.2:n.3620A>T
ENST00000576204.5:n.858A>T
ENST00000622290.4:c.*1204A>T ENSP00000483331.1:n.*1204A>T
NM_001171.5:c.3995A>T NP_001162.4:p.His1332Leu
XM_011522479.1:c.3962A>T XP_011520781.1:p.His1321Leu
XM_011522480.1:c.3653A>T XP_011520782.1:p.His1218Leu
XM_011522481.1:c.3653A>T XP_011520783.1:p.His1218Leu
XR_933134.1:n.539-4862T>A
NM_001351800.1:c.3653A>T NP_001338729.1:p.His1218Leu
NR_147784.1:n.3657A>T
XM_011522479.2:c.3962A>T XP_011520781.1:p.His1321Leu
XM_011522481.3:c.3653A>T XP_011520783.1:p.His1218Leu
XM_017023212.1:c.3827A>T XP_016878701.1:p.His1276Leu
XM_024450261.1:c.4031A>T XP_024306029.1:p.His1344Leu
NM_001171.6:c.3995A>T MANE Select NP_001162.5:p.His1332Leu