Canonical Allele Identifier: CA394883583
Gene: ABCC6 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16150207T>C , CM000678.2:g.16150207T>C GRCh38
NC_000016.9:g.16244064T>C , CM000678.1:g.16244064T>C GRCh37
NC_000016.8:g.16151565T>C NCBI36
NG_007558.2:g.78265A>G
NG_007558.3:g.78411A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622290.5:c.*610A>G ENSP00000483331.2:n.*610A>G
ENST00000205557.12:c.4438A>G MANE Select ENSP00000205557.7:p.Ser1480Gly
ENST00000640696.1:c.1252A>G ENSP00000492197.1:p.Ser418Gly
ENST00000205557.11:c.4438A>G ENSP00000205557.7:p.Ser1480Gly
ENST00000456970.6:c.4063A>G ENSP00000405002.2:n.4063A>G
ENST00000576204.5:n.1301A>G
ENST00000622290.4:c.*1647A>G ENSP00000483331.1:n.*1647A>G
NM_001171.5:c.4438A>G NP_001162.4:p.Ser1480Gly
XM_011522479.1:c.4405A>G XP_011520781.1:p.Ser1469Gly
XM_011522480.1:c.4096A>G XP_011520782.1:p.Ser1366Gly
XM_011522481.1:c.4096A>G XP_011520783.1:p.Ser1366Gly
XR_933134.1:n.538+5917T>C
NM_001351800.1:c.4096A>G NP_001338729.1:p.Ser1366Gly
NR_147784.1:n.4100A>G
XM_011522479.2:c.4405A>G XP_011520781.1:p.Ser1469Gly
XM_011522481.3:c.4096A>G XP_011520783.1:p.Ser1366Gly
XM_017023212.1:c.4270A>G XP_016878701.1:p.Ser1424Gly
XM_024450261.1:c.4474A>G XP_024306029.1:p.Ser1492Gly
NM_001171.6:c.4438A>G MANE Select NP_001162.5:p.Ser1480Gly