Canonical Allele Identifier: CA7925346
Gene: ABCC6 HGNC NCBI

Linked Data

dbSNP Id: rs750243019

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154877G>A , CM000678.2:g.16154877G>A GRCh38
NC_000016.9:g.16248734G>A , CM000678.1:g.16248734G>A GRCh37
NC_000016.8:g.16156235G>A NCBI36
NG_007558.2:g.73595C>T
NG_007558.3:g.73741C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000576204.6:n.900C>T
ENST00000622290.5:c.*209C>T ENSP00000483331.2:n.*209C>T
ENST00000205557.12:c.4037C>T MANE Select ENSP00000205557.7:p.Pro1346Leu
ENST00000640696.1:c.851C>T ENSP00000492197.1:p.Pro284Leu
ENST00000205557.11:c.4037C>T ENSP00000205557.7:p.Pro1346Leu
ENST00000456970.6:c.3662C>T ENSP00000405002.2:n.3662C>T
ENST00000576204.5:n.900C>T
ENST00000622290.4:c.*1246C>T ENSP00000483331.1:n.*1246C>T
NM_001171.5:c.4037C>T NP_001162.4:p.Pro1346Leu
XM_011522479.1:c.4004C>T XP_011520781.1:p.Pro1335Leu
XM_011522480.1:c.3695C>T XP_011520782.1:p.Pro1232Leu
XM_011522481.1:c.3695C>T XP_011520783.1:p.Pro1232Leu
XR_933134.1:n.539-4904G>A
NM_001351800.1:c.3695C>T NP_001338729.1:p.Pro1232Leu
NR_147784.1:n.3699C>T
XM_011522479.2:c.4004C>T XP_011520781.1:p.Pro1335Leu
XM_011522481.3:c.3695C>T XP_011520783.1:p.Pro1232Leu
XM_017023212.1:c.3869C>T XP_016878701.1:p.Pro1290Leu
XM_024450261.1:c.4073C>T XP_024306029.1:p.Pro1358Leu
NM_001171.6:c.4037C>T MANE Select NP_001162.5:p.Pro1346Leu