Canonical Allele Identifier: CA493799268

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244059G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150202G>A , CM000678.2:g.16150202G>A	GRCh38
NC_000016.9:g.16244059G>A , CM000678.1:g.16244059G>A	GRCh37
NC_000016.8:g.16151560G>A	NCBI36
NG_007558.2:g.78270C>T
NG_007558.3:g.78416C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*615C>T	ENSP00000483331.2:n.*615C>T
ENST00000205557.12:c.4443C>T MANE Select	ENSP00000205557.7:p.Gly1481=
ENST00000640696.1:c.1257C>T	ENSP00000492197.1:p.Gly419=
ENST00000205557.11:c.4443C>T	ENSP00000205557.7:p.Gly1481=
ENST00000456970.6:c.4068C>T	ENSP00000405002.2:n.4068C>T
ENST00000576204.5:n.1306C>T
ENST00000622290.4:c.*1652C>T	ENSP00000483331.1:n.*1652C>T
NM_001171.5:c.4443C>T	NP_001162.4:p.Gly1481=
XM_011522479.1:c.4410C>T	XP_011520781.1:p.Gly1470=
XM_011522480.1:c.4101C>T	XP_011520782.1:p.Gly1367=
XM_011522481.1:c.4101C>T	XP_011520783.1:p.Gly1367=
XR_933134.1:n.538+5912G>A
NM_001351800.1:c.4101C>T	NP_001338729.1:p.Gly1367=
NR_147784.1:n.4105C>T
XM_011522479.2:c.4410C>T	XP_011520781.1:p.Gly1470=
XM_011522481.3:c.4101C>T	XP_011520783.1:p.Gly1367=
XM_017023212.1:c.4275C>T	XP_016878701.1:p.Gly1425=
XM_024450261.1:c.4479C>T	XP_024306029.1:p.Gly1493=
NM_001171.6:c.4443C>T MANE Select	NP_001162.5:p.Gly1481=