Canonical Allele Identifier: CA394876229

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155018-C-T
• MyVariant Identifiers: chr16:g.16248875C>T (hg19) ; chr16:g.16155018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155018C>T , CM000678.2:g.16155018C>T	GRCh38
NC_000016.9:g.16248875C>T , CM000678.1:g.16248875C>T	GRCh37
NC_000016.8:g.16156376C>T	NCBI36
NG_007558.2:g.73454G>A
NG_007558.3:g.73600G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.759G>A
ENST00000622290.5:c.*68G>A	ENSP00000483331.2:n.*68G>A
ENST00000205557.12:c.3896G>A MANE Select	ENSP00000205557.7:p.Gly1299Asp
ENST00000640696.1:c.710G>A	ENSP00000492197.1:p.Gly237Asp
ENST00000205557.11:c.3896G>A	ENSP00000205557.7:p.Gly1299Asp
ENST00000456970.6:c.3521G>A	ENSP00000405002.2:n.3521G>A
ENST00000576204.5:n.759G>A
ENST00000622290.4:c.*1105G>A	ENSP00000483331.1:n.*1105G>A
NM_001171.5:c.3896G>A	NP_001162.4:p.Gly1299Asp
XM_011522479.1:c.3863G>A	XP_011520781.1:p.Gly1288Asp
XM_011522480.1:c.3554G>A	XP_011520782.1:p.Gly1185Asp
XM_011522481.1:c.3554G>A	XP_011520783.1:p.Gly1185Asp
XR_932836.1:n.4194G>A
XR_932837.1:n.3932G>A
XR_932838.1:n.3995G>A
XR_933134.1:n.539-4763C>T
NM_001351800.1:c.3554G>A	NP_001338729.1:p.Gly1185Asp
NR_147784.1:n.3558G>A
XM_011522479.2:c.3863G>A	XP_011520781.1:p.Gly1288Asp
XM_011522481.3:c.3554G>A	XP_011520783.1:p.Gly1185Asp
XM_017023212.1:c.3728G>A	XP_016878701.1:p.Gly1243Asp
XM_024450261.1:c.3932G>A	XP_024306029.1:p.Gly1311Asp
XR_932836.2:n.4140G>A
XR_932837.3:n.3877G>A
XR_932838.3:n.3940G>A
NM_001171.6:c.3896G>A MANE Select	NP_001162.5:p.Gly1299Asp