Canonical Allele Identifier: CA7925635
Community Standard Title: NM_001171.6(ABCC6):c.3306+8G>A
Gene: ABCC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16165615C>T , CM000678.2:g.16165615C>T GRCh38
NC_000016.9:g.16259472C>T , CM000678.1:g.16259472C>T GRCh37
NC_000016.8:g.16166973C>T NCBI36
NG_007558.2:g.62857G>A
NG_007558.3:g.63003G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001171.6:c.3306+8G>A MANE Select NP_001162.5:n.3306+8G>A
ENST00000205557.12:c.3306+8G>A MANE Select ENSP00000205557.7:n.3306+8G>A
NM_001171.5:c.3306+8G>A NP_001162.4:n.3306+8G>A
NM_001351800.1:c.2964+8G>A NP_001338729.1:n.2964+8G>A
NR_147784.1:n.3168+8G>A
ENST00000205557.11:c.3306+8G>A ENSP00000205557.7:n.3306+8G>A
ENST00000456970.6:c.3131+8G>A ENSP00000405002.2:n.3131+8G>A
ENST00000622290.4:c.*515+8G>A ENSP00000483331.1:n.*515+8G>A
ENST00000622290.5:c.3306+8G>A ENSP00000483331.2:n.3306+8G>A
ENST00000640696.1:c.320+8G>A ENSP00000492197.1:n.320+8G>A
XM_011522479.1:c.3273+8G>A XP_011520781.1:n.3273+8G>A
XM_011522479.2:c.3273+8G>A XP_011520781.1:n.3273+8G>A
XM_011522480.1:c.2964+8G>A XP_011520782.1:n.2964+8G>A
XM_011522481.1:c.2964+8G>A XP_011520783.1:n.2964+8G>A
XM_011522481.3:c.2964+8G>A XP_011520783.1:n.2964+8G>A
XM_017023212.1:c.3138+8G>A XP_016878701.1:n.3138+8G>A
XM_017023214.1:c.3306+8G>A XP_016878703.1:n.3306+8G>A
XM_024450261.1:c.3342+8G>A XP_024306029.1:n.3342+8G>A
XR_932836.1:n.3541+8G>A
XR_932836.2:n.3487+8G>A
XR_932837.1:n.3542+8G>A
XR_932837.3:n.3487+8G>A
XR_932838.1:n.3542+8G>A
XR_932838.3:n.3487+8G>A