Canonical Allele Identifier: CA394883864

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244528T>A (hg19) ; chr16:g.16150671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150671T>A , CM000678.2:g.16150671T>A	GRCh38
NC_000016.9:g.16244528T>A , CM000678.1:g.16244528T>A	GRCh37
NC_000016.8:g.16152029T>A	NCBI36
NG_007558.2:g.77801A>T
NG_007558.3:g.77947A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*482A>T	ENSP00000483331.2:n.*482A>T
ENST00000205557.12:c.4310A>T MANE Select	ENSP00000205557.7:p.Glu1437Val
ENST00000640696.1:c.1124A>T	ENSP00000492197.1:p.Glu375Val
ENST00000205557.11:c.4310A>T	ENSP00000205557.7:p.Glu1437Val
ENST00000456970.6:c.3935A>T	ENSP00000405002.2:n.3935A>T
ENST00000576204.5:n.1173A>T
ENST00000622290.4:c.*1519A>T	ENSP00000483331.1:n.*1519A>T
NM_001171.5:c.4310A>T	NP_001162.4:p.Glu1437Val
XM_011522479.1:c.4277A>T	XP_011520781.1:p.Glu1426Val
XM_011522480.1:c.3968A>T	XP_011520782.1:p.Glu1323Val
XM_011522481.1:c.3968A>T	XP_011520783.1:p.Glu1323Val
XR_933134.1:n.538+6381T>A
NM_001351800.1:c.3968A>T	NP_001338729.1:p.Glu1323Val
NR_147784.1:n.3972A>T
XM_011522479.2:c.4277A>T	XP_011520781.1:p.Glu1426Val
XM_011522481.3:c.3968A>T	XP_011520783.1:p.Glu1323Val
XM_017023212.1:c.4142A>T	XP_016878701.1:p.Glu1381Val
XM_024450261.1:c.4346A>T	XP_024306029.1:p.Glu1449Val
NM_001171.6:c.4310A>T MANE Select	NP_001162.5:p.Glu1437Val