Canonical Allele Identifier: CA493799568

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263678A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169821A>G , CM000678.2:g.16169821A>G	GRCh38
NC_000016.9:g.16263678A>G , CM000678.1:g.16263678A>G	GRCh37
NC_000016.8:g.16171179A>G	NCBI36
NG_007558.2:g.58651T>C
NG_007558.3:g.58797T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2820T>C	ENSP00000483331.2:p.Arg940=
ENST00000205557.12:c.2820T>C MANE Select	ENSP00000205557.7:p.Arg940=
ENST00000205557.11:c.2820T>C	ENSP00000205557.7:p.Arg940=
ENST00000456970.6:c.2645T>C	ENSP00000405002.2:n.2645T>C
ENST00000622290.4:c.*29T>C	ENSP00000483331.1:n.*29T>C
NM_001171.5:c.2820T>C	NP_001162.4:p.Arg940=
XM_011522479.1:c.2787T>C	XP_011520781.1:p.Arg929=
XM_011522480.1:c.2478T>C	XP_011520782.1:p.Arg826=
XM_011522481.1:c.2478T>C	XP_011520783.1:p.Arg826=
XR_932836.1:n.3055T>C
XR_932837.1:n.3056T>C
XR_932838.1:n.3056T>C
NM_001351800.1:c.2478T>C	NP_001338729.1:p.Arg826=
NR_147784.1:n.2682T>C
XM_011522479.2:c.2787T>C	XP_011520781.1:p.Arg929=
XM_011522481.3:c.2478T>C	XP_011520783.1:p.Arg826=
XM_017023212.1:c.2652T>C	XP_016878701.1:p.Arg884=
XM_017023214.1:c.2820T>C	XP_016878703.1:p.Arg940=
XM_024450261.1:c.2856T>C	XP_024306029.1:p.Arg952=
XR_932836.2:n.3001T>C
XR_932837.3:n.3001T>C
XR_932838.3:n.3001T>C
NM_001171.6:c.2820T>C MANE Select	NP_001162.5:p.Arg940=