Canonical Allele Identifier: CA394880203

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16161561C>T , CM000678.2:g.16161561C>T	GRCh38
NC_000016.9:g.16255418C>T , CM000678.1:g.16255418C>T	GRCh37
NC_000016.8:g.16162919C>T	NCBI36
NG_007558.2:g.66911G>A
NG_007558.3:g.67057G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3510G>A MANE Select	NP_001162.5:p.Trp1170Ter
ENST00000205557.12:c.3510G>A MANE Select	ENSP00000205557.7:p.Trp1170Ter
NM_001171.5:c.3510G>A	NP_001162.4:p.Trp1170Ter
NM_001351800.1:c.3168G>A	NP_001338729.1:p.Trp1056Ter
NR_147784.1:n.3172G>A
ENST00000205557.11:c.3510G>A	ENSP00000205557.7:p.Trp1170Ter
ENST00000456970.6:c.3135G>A	ENSP00000405002.2:n.3135G>A
ENST00000622290.4:c.*719G>A	ENSP00000483331.1:n.*719G>A
ENST00000622290.5:c.3510G>A	ENSP00000483331.2:p.Trp1170Ter
ENST00000640696.1:c.324G>A	ENSP00000492197.1:p.Trp108Ter
XM_011522479.1:c.3477G>A	XP_011520781.1:p.Trp1159Ter
XM_011522479.2:c.3477G>A	XP_011520781.1:p.Trp1159Ter
XM_011522480.1:c.3168G>A	XP_011520782.1:p.Trp1056Ter
XM_011522481.1:c.3168G>A	XP_011520783.1:p.Trp1056Ter
XM_011522481.3:c.3168G>A	XP_011520783.1:p.Trp1056Ter
XM_017023212.1:c.3342G>A	XP_016878701.1:p.Trp1114Ter
XM_017023214.1:c.3310G>A	XP_016878703.1:p.Ala1104Thr
XM_024450261.1:c.3546G>A	XP_024306029.1:p.Trp1182Ter
XR_932836.1:n.3745G>A
XR_932836.2:n.3691G>A
XR_932837.1:n.3546G>A
XR_932837.3:n.3491G>A
XR_932838.1:n.3546G>A
XR_932838.3:n.3491G>A
XR_933133.1:n.260-1135C>T
XR_933134.1:n.607-1135C>T