Canonical Allele Identifier: CA394886154

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173376G>T , CM000678.2:g.16173376G>T	GRCh38
NC_000016.9:g.16267233G>T , CM000678.1:g.16267233G>T	GRCh37
NC_000016.8:g.16174734G>T	NCBI36
NG_007558.2:g.55096C>A
NG_007558.3:g.55242C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.2695C>A MANE Select	NP_001162.5:p.Arg899Ser
ENST00000205557.12:c.2695C>A MANE Select	ENSP00000205557.7:p.Arg899Ser
NM_001171.5:c.2695C>A	NP_001162.4:p.Arg899Ser
NM_001351800.1:c.2353C>A	NP_001338729.1:p.Arg785Ser
NR_147784.1:n.2557C>A
ENST00000205557.11:c.2695C>A	ENSP00000205557.7:p.Arg899Ser
ENST00000456970.6:c.2520C>A	ENSP00000405002.2:p.Thr840=
ENST00000576683.1:n.182C>A
ENST00000622290.4:c.2520C>A	ENSP00000483331.1:p.Thr840=
ENST00000622290.5:c.2695C>A	ENSP00000483331.2:p.Arg899Ser
XM_011522479.1:c.2662C>A	XP_011520781.1:p.Arg888Ser
XM_011522479.2:c.2662C>A	XP_011520781.1:p.Arg888Ser
XM_011522480.1:c.2353C>A	XP_011520782.1:p.Arg785Ser
XM_011522481.1:c.2353C>A	XP_011520783.1:p.Arg785Ser
XM_011522481.3:c.2353C>A	XP_011520783.1:p.Arg785Ser
XM_011522482.1:c.*38C>A	XP_011520784.1:n.*38C>A
XM_011522482.3:c.*38C>A	XP_011520784.1:n.*38C>A
XM_017023212.1:c.2527C>A	XP_016878701.1:p.Arg843Ser
XM_017023214.1:c.2695C>A	XP_016878703.1:p.Arg899Ser
XM_024450261.1:c.2731C>A	XP_024306029.1:p.Arg911Ser
XR_932836.1:n.2930C>A
XR_932836.2:n.2876C>A
XR_932837.1:n.2931C>A
XR_932837.3:n.2876C>A
XR_932838.1:n.2931C>A
XR_932838.3:n.2876C>A