Canonical Allele Identifier: CA493797307

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248817T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154960T>G , CM000678.2:g.16154960T>G	GRCh38
NC_000016.9:g.16248817T>G , CM000678.1:g.16248817T>G	GRCh37
NC_000016.8:g.16156318T>G	NCBI36
NG_007558.2:g.73512A>C
NG_007558.3:g.73658A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.817A>C
ENST00000622290.5:c.*126A>C	ENSP00000483331.2:n.*126A>C
ENST00000205557.12:c.3954A>C MANE Select	ENSP00000205557.7:p.Ala1318=
ENST00000640696.1:c.768A>C	ENSP00000492197.1:p.Ala256=
ENST00000205557.11:c.3954A>C	ENSP00000205557.7:p.Ala1318=
ENST00000456970.6:c.3579A>C	ENSP00000405002.2:n.3579A>C
ENST00000576204.5:n.817A>C
ENST00000622290.4:c.*1163A>C	ENSP00000483331.1:n.*1163A>C
NM_001171.5:c.3954A>C	NP_001162.4:p.Ala1318=
XM_011522479.1:c.3921A>C	XP_011520781.1:p.Ala1307=
XM_011522480.1:c.3612A>C	XP_011520782.1:p.Ala1204=
XM_011522481.1:c.3612A>C	XP_011520783.1:p.Ala1204=
XR_932836.1:n.4252A>C
XR_932837.1:n.3990A>C
XR_932838.1:n.4053A>C
XR_933134.1:n.539-4821T>G
NM_001351800.1:c.3612A>C	NP_001338729.1:p.Ala1204=
NR_147784.1:n.3616A>C
XM_011522479.2:c.3921A>C	XP_011520781.1:p.Ala1307=
XM_011522481.3:c.3612A>C	XP_011520783.1:p.Ala1204=
XM_017023212.1:c.3786A>C	XP_016878701.1:p.Ala1262=
XM_024450261.1:c.3990A>C	XP_024306029.1:p.Ala1330=
XR_932837.3:n.3935A>C
NM_001171.6:c.3954A>C MANE Select	NP_001162.5:p.Ala1318=