Canonical Allele Identifier: CA2631958943
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154838C>T , CM000678.2:g.16154838C>T GRCh38
NC_000016.9:g.16248695C>T , CM000678.1:g.16248695C>T GRCh37
NC_000016.8:g.16156196C>T NCBI36
NG_007558.2:g.73634G>A
NG_007558.3:g.73780G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.904+35G>A
ENST00000622290.5:c.*213+35G>A ENSP00000483331.2:n.*213+35G>A
ENST00000205557.12:c.4041+35G>A MANE Select ENSP00000205557.7:n.4041+35G>A
ENST00000640696.1:c.855+35G>A ENSP00000492197.1:n.855+35G>A
ENST00000205557.11:c.4041+35G>A ENSP00000205557.7:n.4041+35G>A
ENST00000456970.6:c.3666+35G>A ENSP00000405002.2:n.3666+35G>A
ENST00000576204.5:n.904+35G>A
ENST00000622290.4:c.*1250+35G>A ENSP00000483331.1:n.*1250+35G>A
NM_001171.5:c.4041+35G>A NP_001162.4:n.4041+35G>A
XM_011522479.1:c.4008+35G>A XP_011520781.1:n.4008+35G>A
XM_011522480.1:c.3699+35G>A XP_011520782.1:n.3699+35G>A
XM_011522481.1:c.3699+35G>A XP_011520783.1:n.3699+35G>A
XR_933134.1:n.539-4943C>T
NM_001351800.1:c.3699+35G>A NP_001338729.1:n.3699+35G>A
NR_147784.1:n.3703+35G>A
XM_011522479.2:c.4008+35G>A XP_011520781.1:n.4008+35G>A
XM_011522481.3:c.3699+35G>A XP_011520783.1:n.3699+35G>A
XM_017023212.1:c.3873+35G>A XP_016878701.1:n.3873+35G>A
XM_024450261.1:c.4077+35G>A XP_024306029.1:n.4077+35G>A
NM_001171.6:c.4041+35G>A MANE Select NP_001162.5:n.4041+35G>A