Canonical Allele Identifier: CA394884102

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244627A>T (hg19) ; chr16:g.16150770A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150770A>T , CM000678.2:g.16150770A>T	GRCh38
NC_000016.9:g.16244627A>T , CM000678.1:g.16244627A>T	GRCh37
NC_000016.8:g.16152128A>T	NCBI36
NG_007558.2:g.77702T>A
NG_007558.3:g.77848T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*383T>A	ENSP00000483331.2:n.*383T>A
ENST00000205557.12:c.4211T>A MANE Select	ENSP00000205557.7:p.Val1404Glu
ENST00000640696.1:c.1025T>A	ENSP00000492197.1:p.Val342Glu
ENST00000205557.11:c.4211T>A	ENSP00000205557.7:p.Val1404Glu
ENST00000456970.6:c.3836T>A	ENSP00000405002.2:n.3836T>A
ENST00000576204.5:n.1074T>A
ENST00000622290.4:c.*1420T>A	ENSP00000483331.1:n.*1420T>A
NM_001171.5:c.4211T>A	NP_001162.4:p.Val1404Glu
XM_011522479.1:c.4178T>A	XP_011520781.1:p.Val1393Glu
XM_011522480.1:c.3869T>A	XP_011520782.1:p.Val1290Glu
XM_011522481.1:c.3869T>A	XP_011520783.1:p.Val1290Glu
XR_933134.1:n.538+6480A>T
NM_001351800.1:c.3869T>A	NP_001338729.1:p.Val1290Glu
NR_147784.1:n.3873T>A
XM_011522479.2:c.4178T>A	XP_011520781.1:p.Val1393Glu
XM_011522481.3:c.3869T>A	XP_011520783.1:p.Val1290Glu
XM_017023212.1:c.4043T>A	XP_016878701.1:p.Val1348Glu
XM_024450261.1:c.4247T>A	XP_024306029.1:p.Val1416Glu
NM_001171.6:c.4211T>A MANE Select	NP_001162.5:p.Val1404Glu