Canonical Allele Identifier: CA493799690

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248574T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154717T>C , CM000678.2:g.16154717T>C	GRCh38
NC_000016.9:g.16248574T>C , CM000678.1:g.16248574T>C	GRCh37
NC_000016.8:g.16156075T>C	NCBI36
NG_007558.2:g.73755A>G
NG_007558.3:g.73901A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*291A>G	ENSP00000483331.2:n.*291A>G
ENST00000205557.12:c.4119A>G MANE Select	ENSP00000205557.7:p.Ala1373=
ENST00000640696.1:c.933A>G	ENSP00000492197.1:p.Ala311=
ENST00000205557.11:c.4119A>G	ENSP00000205557.7:p.Ala1373=
ENST00000456970.6:c.3744A>G	ENSP00000405002.2:n.3744A>G
ENST00000576204.5:n.982A>G
ENST00000622290.4:c.*1328A>G	ENSP00000483331.1:n.*1328A>G
NM_001171.5:c.4119A>G	NP_001162.4:p.Ala1373=
XM_011522479.1:c.4086A>G	XP_011520781.1:p.Ala1362=
XM_011522480.1:c.3777A>G	XP_011520782.1:p.Ala1259=
XM_011522481.1:c.3777A>G	XP_011520783.1:p.Ala1259=
XR_933134.1:n.539-5064T>C
NM_001351800.1:c.3777A>G	NP_001338729.1:p.Ala1259=
NR_147784.1:n.3781A>G
XM_011522479.2:c.4086A>G	XP_011520781.1:p.Ala1362=
XM_011522481.3:c.3777A>G	XP_011520783.1:p.Ala1259=
XM_017023212.1:c.3951A>G	XP_016878701.1:p.Ala1317=
XM_024450261.1:c.4155A>G	XP_024306029.1:p.Ala1385=
NM_001171.6:c.4119A>G MANE Select	NP_001162.5:p.Ala1373=