Canonical Allele Identifier: CA16609774

Gene: ABCC6

Linked Data - Expert Curation

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154973C>T , CM000678.2:g.16154973C>T	GRCh38
NC_000016.9:g.16248830C>T , CM000678.1:g.16248830C>T	GRCh37
NC_000016.8:g.16156331C>T	NCBI36
NG_007558.2:g.73499G>A
NG_007558.3:g.73645G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.804G>A
ENST00000622290.5:c.*113G>A	ENSP00000483331.2:n.*113G>A
ENST00000205557.12:c.3941G>A MANE Select	ENSP00000205557.7:p.Arg1314Gln
ENST00000640696.1:c.755G>A	ENSP00000492197.1:p.Arg252Gln
ENST00000205557.11:c.3941G>A	ENSP00000205557.7:p.Arg1314Gln
ENST00000456970.6:c.3566G>A	ENSP00000405002.2:n.3566G>A
ENST00000576204.5:n.804G>A
ENST00000622290.4:c.*1150G>A	ENSP00000483331.1:n.*1150G>A
NM_001171.5:c.3941G>A	NP_001162.4:p.Arg1314Gln
XM_011522479.1:c.3908G>A	XP_011520781.1:p.Arg1303Gln
XM_011522480.1:c.3599G>A	XP_011520782.1:p.Arg1200Gln
XM_011522481.1:c.3599G>A	XP_011520783.1:p.Arg1200Gln
XR_932836.1:n.4239G>A
XR_932837.1:n.3977G>A
XR_932838.1:n.4040G>A
XR_933134.1:n.539-4808C>T
NM_001351800.1:c.3599G>A	NP_001338729.1:p.Arg1200Gln
NR_147784.1:n.3603G>A
XM_011522479.2:c.3908G>A	XP_011520781.1:p.Arg1303Gln
XM_011522481.3:c.3599G>A	XP_011520783.1:p.Arg1200Gln
XM_017023212.1:c.3773G>A	XP_016878701.1:p.Arg1258Gln
XM_024450261.1:c.3977G>A	XP_024306029.1:p.Arg1326Gln
XR_932836.2:n.4185G>A
XR_932837.3:n.3922G>A
XR_932838.3:n.3985G>A
NM_001171.6:c.3941G>A MANE Select	NP_001162.5:p.Arg1314Gln