Canonical Allele Identifier: CA493799607

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244623G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150766G>A , CM000678.2:g.16150766G>A	GRCh38
NC_000016.9:g.16244623G>A , CM000678.1:g.16244623G>A	GRCh37
NC_000016.8:g.16152124G>A	NCBI36
NG_007558.2:g.77706C>T
NG_007558.3:g.77852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*387C>T	ENSP00000483331.2:n.*387C>T
ENST00000205557.12:c.4215C>T MANE Select	ENSP00000205557.7:p.Gly1405=
ENST00000640696.1:c.1029C>T	ENSP00000492197.1:p.Gly343=
ENST00000205557.11:c.4215C>T	ENSP00000205557.7:p.Gly1405=
ENST00000456970.6:c.3840C>T	ENSP00000405002.2:n.3840C>T
ENST00000576204.5:n.1078C>T
ENST00000622290.4:c.*1424C>T	ENSP00000483331.1:n.*1424C>T
NM_001171.5:c.4215C>T	NP_001162.4:p.Gly1405=
XM_011522479.1:c.4182C>T	XP_011520781.1:p.Gly1394=
XM_011522480.1:c.3873C>T	XP_011520782.1:p.Gly1291=
XM_011522481.1:c.3873C>T	XP_011520783.1:p.Gly1291=
XR_933134.1:n.538+6476G>A
NM_001351800.1:c.3873C>T	NP_001338729.1:p.Gly1291=
NR_147784.1:n.3877C>T
XM_011522479.2:c.4182C>T	XP_011520781.1:p.Gly1394=
XM_011522481.3:c.3873C>T	XP_011520783.1:p.Gly1291=
XM_017023212.1:c.4047C>T	XP_016878701.1:p.Gly1349=
XM_024450261.1:c.4251C>T	XP_024306029.1:p.Gly1417=
NM_001171.6:c.4215C>T MANE Select	NP_001162.5:p.Gly1405=