Canonical Allele Identifier: CA394883536

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244040C>T (hg19) ; chr16:g.16150183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150183C>T , CM000678.2:g.16150183C>T	GRCh38
NC_000016.9:g.16244040C>T , CM000678.1:g.16244040C>T	GRCh37
NC_000016.8:g.16151541C>T	NCBI36
NG_007558.2:g.78289G>A
NG_007558.3:g.78435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*634G>A	ENSP00000483331.2:n.*634G>A
ENST00000205557.12:c.4462G>A MANE Select	ENSP00000205557.7:p.Ala1488Thr
ENST00000640696.1:c.1276G>A	ENSP00000492197.1:p.Ala426Thr
ENST00000205557.11:c.4462G>A	ENSP00000205557.7:p.Ala1488Thr
ENST00000456970.6:c.4087G>A	ENSP00000405002.2:n.4087G>A
ENST00000576204.5:n.1325G>A
ENST00000622290.4:c.*1671G>A	ENSP00000483331.1:n.*1671G>A
NM_001171.5:c.4462G>A	NP_001162.4:p.Ala1488Thr
XM_011522479.1:c.4429G>A	XP_011520781.1:p.Ala1477Thr
XM_011522480.1:c.4120G>A	XP_011520782.1:p.Ala1374Thr
XM_011522481.1:c.4120G>A	XP_011520783.1:p.Ala1374Thr
XR_933134.1:n.538+5893C>T
NM_001351800.1:c.4120G>A	NP_001338729.1:p.Ala1374Thr
NR_147784.1:n.4124G>A
XM_011522479.2:c.4429G>A	XP_011520781.1:p.Ala1477Thr
XM_011522481.3:c.4120G>A	XP_011520783.1:p.Ala1374Thr
XM_017023212.1:c.4294G>A	XP_016878701.1:p.Ala1432Thr
XM_024450261.1:c.4498G>A	XP_024306029.1:p.Ala1500Thr
NM_001171.6:c.4462G>A MANE Select	NP_001162.5:p.Ala1488Thr