Canonical Allele Identifier: CA493797184

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248739G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154882G>A , CM000678.2:g.16154882G>A	GRCh38
NC_000016.9:g.16248739G>A , CM000678.1:g.16248739G>A	GRCh37
NC_000016.8:g.16156240G>A	NCBI36
NG_007558.2:g.73590C>T
NG_007558.3:g.73736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.895C>T
ENST00000622290.5:c.*204C>T	ENSP00000483331.2:n.*204C>T
ENST00000205557.12:c.4032C>T MANE Select	ENSP00000205557.7:p.Ile1344=
ENST00000640696.1:c.846C>T	ENSP00000492197.1:p.Ile282=
ENST00000205557.11:c.4032C>T	ENSP00000205557.7:p.Ile1344=
ENST00000456970.6:c.3657C>T	ENSP00000405002.2:n.3657C>T
ENST00000576204.5:n.895C>T
ENST00000622290.4:c.*1241C>T	ENSP00000483331.1:n.*1241C>T
NM_001171.5:c.4032C>T	NP_001162.4:p.Ile1344=
XM_011522479.1:c.3999C>T	XP_011520781.1:p.Ile1333=
XM_011522480.1:c.3690C>T	XP_011520782.1:p.Ile1230=
XM_011522481.1:c.3690C>T	XP_011520783.1:p.Ile1230=
XR_933134.1:n.539-4899G>A
NM_001351800.1:c.3690C>T	NP_001338729.1:p.Ile1230=
NR_147784.1:n.3694C>T
XM_011522479.2:c.3999C>T	XP_011520781.1:p.Ile1333=
XM_011522481.3:c.3690C>T	XP_011520783.1:p.Ile1230=
XM_017023212.1:c.3864C>T	XP_016878701.1:p.Ile1288=
XM_024450261.1:c.4068C>T	XP_024306029.1:p.Ile1356=
NM_001171.6:c.4032C>T MANE Select	NP_001162.5:p.Ile1344=