Canonical Allele Identifier: CA7925418

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16157759G>A , CM000678.2:g.16157759G>A	GRCh38
NC_000016.9:g.16251616G>A , CM000678.1:g.16251616G>A	GRCh37
NC_000016.8:g.16159117G>A	NCBI36
NG_007558.2:g.70713C>T
NG_007558.3:g.70859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3786C>T MANE Select	NP_001162.5:p.Gly1262=
ENST00000205557.12:c.3786C>T MANE Select	ENSP00000205557.7:p.Gly1262=
NM_001171.5:c.3786C>T	NP_001162.4:p.Gly1262=
NM_001351800.1:c.3444C>T	NP_001338729.1:p.Gly1148=
NR_147784.1:n.3448C>T
ENST00000205557.11:c.3786C>T	ENSP00000205557.7:p.Gly1262=
ENST00000456970.6:c.3411C>T	ENSP00000405002.2:n.3411C>T
ENST00000622290.4:c.*995C>T	ENSP00000483331.1:n.*995C>T
ENST00000622290.5:c.3786C>T	ENSP00000483331.2:p.Gly1262=
ENST00000640696.1:c.600C>T	ENSP00000492197.1:p.Gly200=
XM_011522479.1:c.3753C>T	XP_011520781.1:p.Gly1251=
XM_011522479.2:c.3753C>T	XP_011520781.1:p.Gly1251=
XM_011522480.1:c.3444C>T	XP_011520782.1:p.Gly1148=
XM_011522481.1:c.3444C>T	XP_011520783.1:p.Gly1148=
XM_011522481.3:c.3444C>T	XP_011520783.1:p.Gly1148=
XM_017023212.1:c.3618C>T	XP_016878701.1:p.Gly1206=
XM_024450261.1:c.3822C>T	XP_024306029.1:p.Gly1274=
XR_932836.1:n.4021C>T
XR_932836.2:n.3967C>T
XR_932837.1:n.3822C>T
XR_932837.3:n.3767C>T
XR_932838.1:n.3822C>T
XR_932838.3:n.3767C>T
XR_933134.1:n.539-2022G>A