Canonical Allele Identifier: CA7925348

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154899G>T , CM000678.2:g.16154899G>T	GRCh38
NC_000016.9:g.16248756G>T , CM000678.1:g.16248756G>T	GRCh37
NC_000016.8:g.16156257G>T	NCBI36
NG_007558.2:g.73573C>A
NG_007558.3:g.73719C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4015C>A MANE Select	NP_001162.5:p.Arg1339Ser
ENST00000205557.12:c.4015C>A MANE Select	ENSP00000205557.7:p.Arg1339Ser
NM_001171.5:c.4015C>A	NP_001162.4:p.Arg1339Ser
NM_001351800.1:c.3673C>A	NP_001338729.1:p.Arg1225Ser
NR_147784.1:n.3677C>A
ENST00000205557.11:c.4015C>A	ENSP00000205557.7:p.Arg1339Ser
ENST00000456970.6:c.3640C>A	ENSP00000405002.2:n.3640C>A
ENST00000576204.5:n.878C>A
ENST00000576204.6:n.878C>A
ENST00000622290.4:c.*1224C>A	ENSP00000483331.1:n.*1224C>A
ENST00000622290.5:c.*187C>A	ENSP00000483331.2:n.*187C>A
ENST00000640696.1:c.829C>A	ENSP00000492197.1:p.Arg277Ser
XM_011522479.1:c.3982C>A	XP_011520781.1:p.Arg1328Ser
XM_011522479.2:c.3982C>A	XP_011520781.1:p.Arg1328Ser
XM_011522480.1:c.3673C>A	XP_011520782.1:p.Arg1225Ser
XM_011522481.1:c.3673C>A	XP_011520783.1:p.Arg1225Ser
XM_011522481.3:c.3673C>A	XP_011520783.1:p.Arg1225Ser
XM_017023212.1:c.3847C>A	XP_016878701.1:p.Arg1283Ser
XM_024450261.1:c.4051C>A	XP_024306029.1:p.Arg1351Ser
XR_933134.1:n.539-4882G>T