Canonical Allele Identifier: CA2631973188
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16201877G>T , CM000678.2:g.16201877G>T GRCh38
NC_000016.9:g.16295734G>T , CM000678.1:g.16295734G>T GRCh37
NC_000016.8:g.16203235G>T NCBI36
NG_007558.2:g.26595C>A
NG_007558.3:g.26741C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000574094.6:c.1176+124C>A ENSP00000507301.1:n.1176+124C>A
ENST00000622290.5:c.1176+124C>A ENSP00000483331.2:n.1176+124C>A
ENST00000205557.12:c.1176+124C>A MANE Select ENSP00000205557.7:n.1176+124C>A
ENST00000205557.11:c.1176+124C>A ENSP00000205557.7:n.1176+124C>A
ENST00000456970.6:c.1176+124C>A ENSP00000405002.2:n.1176+124C>A
ENST00000574094.5:n.1272+124C>A
ENST00000622290.4:c.1176+124C>A ENSP00000483331.1:n.1176+124C>A
NM_001171.5:c.1176+124C>A NP_001162.4:n.1176+124C>A
XM_011522479.1:c.1176+124C>A XP_011520781.1:n.1176+124C>A
XM_011522480.1:c.834+124C>A XP_011520782.1:n.834+124C>A
XM_011522481.1:c.834+124C>A XP_011520783.1:n.834+124C>A
XM_011522482.1:c.1176+124C>A XP_011520784.1:n.1176+124C>A
XR_932836.1:n.1411+124C>A
XR_932837.1:n.1412+124C>A
XR_932838.1:n.1412+124C>A
NM_001351800.1:c.834+124C>A NP_001338729.1:n.834+124C>A
NR_147784.1:n.1213+124C>A
XM_011522479.2:c.1176+124C>A XP_011520781.1:n.1176+124C>A
XM_011522481.3:c.834+124C>A XP_011520783.1:n.834+124C>A
XM_011522482.3:c.1176+124C>A XP_011520784.1:n.1176+124C>A
XM_017023212.1:c.1176+124C>A XP_016878701.1:n.1176+124C>A
XM_017023214.1:c.1176+124C>A XP_016878703.1:n.1176+124C>A
XM_024450261.1:c.1212+124C>A XP_024306029.1:n.1212+124C>A
XR_932836.2:n.1357+124C>A
XR_932837.3:n.1357+124C>A
XR_932838.3:n.1357+124C>A
NM_001171.6:c.1176+124C>A MANE Select NP_001162.5:n.1176+124C>A