Canonical Allele Identifier: CA394875926

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248840C>T (hg19) ; chr16:g.16154983C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154983C>T , CM000678.2:g.16154983C>T	GRCh38
NC_000016.9:g.16248840C>T , CM000678.1:g.16248840C>T	GRCh37
NC_000016.8:g.16156341C>T	NCBI36
NG_007558.2:g.73489G>A
NG_007558.3:g.73635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.794G>A
ENST00000622290.5:c.*103G>A	ENSP00000483331.2:n.*103G>A
ENST00000205557.12:c.3931G>A MANE Select	ENSP00000205557.7:p.Gly1311Arg
ENST00000640696.1:c.745G>A	ENSP00000492197.1:p.Gly249Arg
ENST00000205557.11:c.3931G>A	ENSP00000205557.7:p.Gly1311Arg
ENST00000456970.6:c.3556G>A	ENSP00000405002.2:n.3556G>A
ENST00000576204.5:n.794G>A
ENST00000622290.4:c.*1140G>A	ENSP00000483331.1:n.*1140G>A
NM_001171.5:c.3931G>A	NP_001162.4:p.Gly1311Arg
XM_011522479.1:c.3898G>A	XP_011520781.1:p.Gly1300Arg
XM_011522480.1:c.3589G>A	XP_011520782.1:p.Gly1197Arg
XM_011522481.1:c.3589G>A	XP_011520783.1:p.Gly1197Arg
XR_932836.1:n.4229G>A
XR_932837.1:n.3967G>A
XR_932838.1:n.4030G>A
XR_933134.1:n.539-4798C>T
NM_001351800.1:c.3589G>A	NP_001338729.1:p.Gly1197Arg
NR_147784.1:n.3593G>A
XM_011522479.2:c.3898G>A	XP_011520781.1:p.Gly1300Arg
XM_011522481.3:c.3589G>A	XP_011520783.1:p.Gly1197Arg
XM_017023212.1:c.3763G>A	XP_016878701.1:p.Gly1255Arg
XM_024450261.1:c.3967G>A	XP_024306029.1:p.Gly1323Arg
XR_932836.2:n.4175G>A
XR_932837.3:n.3912G>A
XR_932838.3:n.3975G>A
NM_001171.6:c.3931G>A MANE Select	NP_001162.5:p.Gly1311Arg