Canonical Allele Identifier: CA493797470

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248874G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155017G>C , CM000678.2:g.16155017G>C	GRCh38
NC_000016.9:g.16248874G>C , CM000678.1:g.16248874G>C	GRCh37
NC_000016.8:g.16156375G>C	NCBI36
NG_007558.2:g.73455C>G
NG_007558.3:g.73601C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.760C>G
ENST00000622290.5:c.*69C>G	ENSP00000483331.2:n.*69C>G
ENST00000205557.12:c.3897C>G MANE Select	ENSP00000205557.7:p.Gly1299=
ENST00000640696.1:c.711C>G	ENSP00000492197.1:p.Gly237=
ENST00000205557.11:c.3897C>G	ENSP00000205557.7:p.Gly1299=
ENST00000456970.6:c.3522C>G	ENSP00000405002.2:n.3522C>G
ENST00000576204.5:n.760C>G
ENST00000622290.4:c.*1106C>G	ENSP00000483331.1:n.*1106C>G
NM_001171.5:c.3897C>G	NP_001162.4:p.Gly1299=
XM_011522479.1:c.3864C>G	XP_011520781.1:p.Gly1288=
XM_011522480.1:c.3555C>G	XP_011520782.1:p.Gly1185=
XM_011522481.1:c.3555C>G	XP_011520783.1:p.Gly1185=
XR_932836.1:n.4195C>G
XR_932837.1:n.3933C>G
XR_932838.1:n.3996C>G
XR_933134.1:n.539-4764G>C
NM_001351800.1:c.3555C>G	NP_001338729.1:p.Gly1185=
NR_147784.1:n.3559C>G
XM_011522479.2:c.3864C>G	XP_011520781.1:p.Gly1288=
XM_011522481.3:c.3555C>G	XP_011520783.1:p.Gly1185=
XM_017023212.1:c.3729C>G	XP_016878701.1:p.Gly1243=
XM_024450261.1:c.3933C>G	XP_024306029.1:p.Gly1311=
XR_932836.2:n.4141C>G
XR_932837.3:n.3878C>G
XR_932838.3:n.3941C>G
NM_001171.6:c.3897C>G MANE Select	NP_001162.5:p.Gly1299=