Canonical Allele Identifier: CA394875577

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154916-A-T
• MyVariant Identifiers: chr16:g.16248773A>T (hg19) ; chr16:g.16154916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154916A>T , CM000678.2:g.16154916A>T	GRCh38
NC_000016.9:g.16248773A>T , CM000678.1:g.16248773A>T	GRCh37
NC_000016.8:g.16156274A>T	NCBI36
NG_007558.2:g.73556T>A
NG_007558.3:g.73702T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.861T>A
ENST00000622290.5:c.*170T>A	ENSP00000483331.2:n.*170T>A
ENST00000205557.12:c.3998T>A MANE Select	ENSP00000205557.7:p.Val1333Glu
ENST00000640696.1:c.812T>A	ENSP00000492197.1:p.Val271Glu
ENST00000205557.11:c.3998T>A	ENSP00000205557.7:p.Val1333Glu
ENST00000456970.6:c.3623T>A	ENSP00000405002.2:n.3623T>A
ENST00000576204.5:n.861T>A
ENST00000622290.4:c.*1207T>A	ENSP00000483331.1:n.*1207T>A
NM_001171.5:c.3998T>A	NP_001162.4:p.Val1333Glu
XM_011522479.1:c.3965T>A	XP_011520781.1:p.Val1322Glu
XM_011522480.1:c.3656T>A	XP_011520782.1:p.Val1219Glu
XM_011522481.1:c.3656T>A	XP_011520783.1:p.Val1219Glu
XR_933134.1:n.539-4865A>T
NM_001351800.1:c.3656T>A	NP_001338729.1:p.Val1219Glu
NR_147784.1:n.3660T>A
XM_011522479.2:c.3965T>A	XP_011520781.1:p.Val1322Glu
XM_011522481.3:c.3656T>A	XP_011520783.1:p.Val1219Glu
XM_017023212.1:c.3830T>A	XP_016878701.1:p.Val1277Glu
XM_024450261.1:c.4034T>A	XP_024306029.1:p.Val1345Glu
NM_001171.6:c.3998T>A MANE Select	NP_001162.5:p.Val1333Glu