Canonical Allele Identifier: CA7925356
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs142505247

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154917C>G , CM000678.2:g.16154917C>G GRCh38
NC_000016.9:g.16248774C>G , CM000678.1:g.16248774C>G GRCh37
NC_000016.8:g.16156275C>G NCBI36
NG_007558.2:g.73555G>C
NG_007558.3:g.73701G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.860G>C
ENST00000622290.5:c.*169G>C ENSP00000483331.2:n.*169G>C
ENST00000205557.12:c.3997G>C MANE Select ENSP00000205557.7:p.Val1333Leu
ENST00000640696.1:c.811G>C ENSP00000492197.1:p.Val271Leu
ENST00000205557.11:c.3997G>C ENSP00000205557.7:p.Val1333Leu
ENST00000456970.6:c.3622G>C ENSP00000405002.2:n.3622G>C
ENST00000576204.5:n.860G>C
ENST00000622290.4:c.*1206G>C ENSP00000483331.1:n.*1206G>C
NM_001171.5:c.3997G>C NP_001162.4:p.Val1333Leu
XM_011522479.1:c.3964G>C XP_011520781.1:p.Val1322Leu
XM_011522480.1:c.3655G>C XP_011520782.1:p.Val1219Leu
XM_011522481.1:c.3655G>C XP_011520783.1:p.Val1219Leu
XR_933134.1:n.539-4864C>G
NM_001351800.1:c.3655G>C NP_001338729.1:p.Val1219Leu
NR_147784.1:n.3659G>C
XM_011522479.2:c.3964G>C XP_011520781.1:p.Val1322Leu
XM_011522481.3:c.3655G>C XP_011520783.1:p.Val1219Leu
XM_017023212.1:c.3829G>C XP_016878701.1:p.Val1277Leu
XM_024450261.1:c.4033G>C XP_024306029.1:p.Val1345Leu
NM_001171.6:c.3997G>C MANE Select NP_001162.5:p.Val1333Leu