Canonical Allele Identifier: CA394876138

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155009-C-A
• MyVariant Identifiers: chr16:g.16248866C>A (hg19) ; chr16:g.16155009C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155009C>A , CM000678.2:g.16155009C>A	GRCh38
NC_000016.9:g.16248866C>A , CM000678.1:g.16248866C>A	GRCh37
NC_000016.8:g.16156367C>A	NCBI36
NG_007558.2:g.73463G>T
NG_007558.3:g.73609G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.768G>T
ENST00000622290.5:c.*77G>T	ENSP00000483331.2:n.*77G>T
ENST00000205557.12:c.3905G>T MANE Select	ENSP00000205557.7:p.Gly1302Val
ENST00000640696.1:c.719G>T	ENSP00000492197.1:p.Gly240Val
ENST00000205557.11:c.3905G>T	ENSP00000205557.7:p.Gly1302Val
ENST00000456970.6:c.3530G>T	ENSP00000405002.2:n.3530G>T
ENST00000576204.5:n.768G>T
ENST00000622290.4:c.*1114G>T	ENSP00000483331.1:n.*1114G>T
NM_001171.5:c.3905G>T	NP_001162.4:p.Gly1302Val
XM_011522479.1:c.3872G>T	XP_011520781.1:p.Gly1291Val
XM_011522480.1:c.3563G>T	XP_011520782.1:p.Gly1188Val
XM_011522481.1:c.3563G>T	XP_011520783.1:p.Gly1188Val
XR_932836.1:n.4203G>T
XR_932837.1:n.3941G>T
XR_932838.1:n.4004G>T
XR_933134.1:n.539-4772C>A
NM_001351800.1:c.3563G>T	NP_001338729.1:p.Gly1188Val
NR_147784.1:n.3567G>T
XM_011522479.2:c.3872G>T	XP_011520781.1:p.Gly1291Val
XM_011522481.3:c.3563G>T	XP_011520783.1:p.Gly1188Val
XM_017023212.1:c.3737G>T	XP_016878701.1:p.Gly1246Val
XM_024450261.1:c.3941G>T	XP_024306029.1:p.Gly1314Val
XR_932836.2:n.4149G>T
XR_932837.3:n.3886G>T
XR_932838.3:n.3949G>T
NM_001171.6:c.3905G>T MANE Select	NP_001162.5:p.Gly1302Val