Canonical Allele Identifier: CA493798968

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256912A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163055A>G , CM000678.2:g.16163055A>G	GRCh38
NC_000016.9:g.16256912A>G , CM000678.1:g.16256912A>G	GRCh37
NC_000016.8:g.16164413A>G	NCBI36
NG_007558.2:g.65417T>C
NG_007558.3:g.65563T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3444T>C	ENSP00000483331.2:p.Ala1148=
ENST00000205557.12:c.3444T>C MANE Select	ENSP00000205557.7:p.Ala1148=
ENST00000640696.1:c.321-1491T>C	ENSP00000492197.1:n.321-1491T>C
ENST00000205557.11:c.3444T>C	ENSP00000205557.7:p.Ala1148=
ENST00000456970.6:c.3132-1491T>C	ENSP00000405002.2:n.3132-1491T>C
ENST00000622290.4:c.*653T>C	ENSP00000483331.1:n.*653T>C
NM_001171.5:c.3444T>C	NP_001162.4:p.Ala1148=
XM_011522479.1:c.3411T>C	XP_011520781.1:p.Ala1137=
XM_011522480.1:c.3102T>C	XP_011520782.1:p.Ala1034=
XM_011522481.1:c.3102T>C	XP_011520783.1:p.Ala1034=
XR_932836.1:n.3679T>C
XR_932837.1:n.3543-1491T>C
XR_932838.1:n.3543-1491T>C
XR_933133.1:n.407+212A>G
XR_933134.1:n.754+212A>G
NM_001351800.1:c.3102T>C	NP_001338729.1:p.Ala1034=
NR_147784.1:n.3169-1491T>C
XM_011522479.2:c.3411T>C	XP_011520781.1:p.Ala1137=
XM_011522481.3:c.3102T>C	XP_011520783.1:p.Ala1034=
XM_017023212.1:c.3276T>C	XP_016878701.1:p.Ala1092=
XM_017023214.1:c.3307-1491T>C	XP_016878703.1:n.3307-1491T>C
XM_024450261.1:c.3480T>C	XP_024306029.1:p.Ala1160=
XR_932836.2:n.3625T>C
XR_932837.3:n.3488-1491T>C
XR_932838.3:n.3488-1491T>C
NM_001171.6:c.3444T>C MANE Select	NP_001162.5:p.Ala1148=