Canonical Allele Identifier: CA493799213

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244002T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150145T>A , CM000678.2:g.16150145T>A	GRCh38
NC_000016.9:g.16244002T>A , CM000678.1:g.16244002T>A	GRCh37
NC_000016.8:g.16151503T>A	NCBI36
NG_007558.2:g.78327A>T
NG_007558.3:g.78473A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*672A>T	ENSP00000483331.2:n.*672A>T
ENST00000205557.12:c.4500A>T MANE Select	ENSP00000205557.7:p.Ser1500=
ENST00000640696.1:c.1314A>T	ENSP00000492197.1:p.Ser438=
ENST00000205557.11:c.4500A>T	ENSP00000205557.7:p.Ser1500=
ENST00000456970.6:c.4125A>T	ENSP00000405002.2:n.4125A>T
ENST00000576204.5:n.1363A>T
ENST00000622290.4:c.*1709A>T	ENSP00000483331.1:n.*1709A>T
NM_001171.5:c.4500A>T	NP_001162.4:p.Ser1500=
XM_011522479.1:c.4467A>T	XP_011520781.1:p.Ser1489=
XM_011522480.1:c.4158A>T	XP_011520782.1:p.Ser1386=
XM_011522481.1:c.4158A>T	XP_011520783.1:p.Ser1386=
XR_933134.1:n.538+5855T>A
NM_001351800.1:c.4158A>T	NP_001338729.1:p.Ser1386=
NR_147784.1:n.4162A>T
XM_011522479.2:c.4467A>T	XP_011520781.1:p.Ser1489=
XM_011522481.3:c.4158A>T	XP_011520783.1:p.Ser1386=
XM_017023212.1:c.4332A>T	XP_016878701.1:p.Ser1444=
XM_024450261.1:c.4536A>T	XP_024306029.1:p.Ser1512=
NM_001171.6:c.4500A>T MANE Select	NP_001162.5:p.Ser1500=