Canonical Allele Identifier: CA394879768

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161473C>T , CM000678.2:g.16161473C>T	GRCh38
NC_000016.9:g.16255330C>T , CM000678.1:g.16255330C>T	GRCh37
NC_000016.8:g.16162831C>T	NCBI36
NG_007558.2:g.66999G>A
NG_007558.3:g.67145G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3598G>A MANE Select	NP_001162.5:p.Gly1200Ser
ENST00000205557.12:c.3598G>A MANE Select	ENSP00000205557.7:p.Gly1200Ser
NM_001171.5:c.3598G>A	NP_001162.4:p.Gly1200Ser
NM_001351800.1:c.3256G>A	NP_001338729.1:p.Gly1086Ser
NR_147784.1:n.3260G>A
ENST00000205557.11:c.3598G>A	ENSP00000205557.7:p.Gly1200Ser
ENST00000456970.6:c.3223G>A	ENSP00000405002.2:n.3223G>A
ENST00000622290.4:c.*807G>A	ENSP00000483331.1:n.*807G>A
ENST00000622290.5:c.3598G>A	ENSP00000483331.2:p.Gly1200Ser
ENST00000640696.1:c.412G>A	ENSP00000492197.1:p.Gly138Ser
XM_011522479.1:c.3565G>A	XP_011520781.1:p.Gly1189Ser
XM_011522479.2:c.3565G>A	XP_011520781.1:p.Gly1189Ser
XM_011522480.1:c.3256G>A	XP_011520782.1:p.Gly1086Ser
XM_011522481.1:c.3256G>A	XP_011520783.1:p.Gly1086Ser
XM_011522481.3:c.3256G>A	XP_011520783.1:p.Gly1086Ser
XM_017023212.1:c.3430G>A	XP_016878701.1:p.Gly1144Ser
XM_017023214.1:c.3398G>A	XP_016878703.1:p.Trp1133Ter
XM_024450261.1:c.3634G>A	XP_024306029.1:p.Gly1212Ser
XR_932836.1:n.3833G>A
XR_932836.2:n.3779G>A
XR_932837.1:n.3634G>A
XR_932837.3:n.3579G>A
XR_932838.1:n.3634G>A
XR_932838.3:n.3579G>A
XR_933133.1:n.260-1223C>T
XR_933134.1:n.607-1223C>T