Canonical Allele Identifier: CA493798024

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159514G>T , CM000678.2:g.16159514G>T	GRCh38
NC_000016.9:g.16253371G>T , CM000678.1:g.16253371G>T	GRCh37
NC_000016.8:g.16160872G>T	NCBI36
NG_007558.2:g.68958C>A
NG_007558.3:g.69104C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3703C>A MANE Select	NP_001162.5:p.Arg1235=
ENST00000205557.12:c.3703C>A MANE Select	ENSP00000205557.7:p.Arg1235=
NM_001171.5:c.3703C>A	NP_001162.4:p.Arg1235=
NM_001351800.1:c.3361C>A	NP_001338729.1:p.Arg1121=
NR_147784.1:n.3365C>A
ENST00000205557.11:c.3703C>A	ENSP00000205557.7:p.Arg1235=
ENST00000456970.6:c.3328C>A	ENSP00000405002.2:n.3328C>A
ENST00000622290.4:c.*912C>A	ENSP00000483331.1:n.*912C>A
ENST00000622290.5:c.3703C>A	ENSP00000483331.2:p.Arg1235=
ENST00000640696.1:c.517C>A	ENSP00000492197.1:p.Arg173=
XM_011522479.1:c.3670C>A	XP_011520781.1:p.Arg1224=
XM_011522479.2:c.3670C>A	XP_011520781.1:p.Arg1224=
XM_011522480.1:c.3361C>A	XP_011520782.1:p.Arg1121=
XM_011522481.1:c.3361C>A	XP_011520783.1:p.Arg1121=
XM_011522481.3:c.3361C>A	XP_011520783.1:p.Arg1121=
XM_017023212.1:c.3535C>A	XP_016878701.1:p.Arg1179=
XM_024450261.1:c.3739C>A	XP_024306029.1:p.Arg1247=
XR_932836.1:n.3938C>A
XR_932836.2:n.3884C>A
XR_932837.1:n.3739C>A
XR_932837.3:n.3684C>A
XR_932838.1:n.3739C>A
XR_932838.3:n.3684C>A
XR_933134.1:n.539-267G>T