Canonical Allele Identifier: CA394875693

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248803A>C (hg19) ; chr16:g.16154946A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154946A>C , CM000678.2:g.16154946A>C	GRCh38
NC_000016.9:g.16248803A>C , CM000678.1:g.16248803A>C	GRCh37
NC_000016.8:g.16156304A>C	NCBI36
NG_007558.2:g.73526T>G
NG_007558.3:g.73672T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.831T>G
ENST00000622290.5:c.*140T>G	ENSP00000483331.2:n.*140T>G
ENST00000205557.12:c.3968T>G MANE Select	ENSP00000205557.7:p.Ile1323Ser
ENST00000640696.1:c.782T>G	ENSP00000492197.1:p.Ile261Ser
ENST00000205557.11:c.3968T>G	ENSP00000205557.7:p.Ile1323Ser
ENST00000456970.6:c.3593T>G	ENSP00000405002.2:n.3593T>G
ENST00000576204.5:n.831T>G
ENST00000622290.4:c.*1177T>G	ENSP00000483331.1:n.*1177T>G
NM_001171.5:c.3968T>G	NP_001162.4:p.Ile1323Ser
XM_011522479.1:c.3935T>G	XP_011520781.1:p.Ile1312Ser
XM_011522480.1:c.3626T>G	XP_011520782.1:p.Ile1209Ser
XM_011522481.1:c.3626T>G	XP_011520783.1:p.Ile1209Ser
XR_932836.1:n.4266T>G
XR_932837.1:n.4004T>G
XR_932838.1:n.4067T>G
XR_933134.1:n.539-4835A>C
NM_001351800.1:c.3626T>G	NP_001338729.1:p.Ile1209Ser
NR_147784.1:n.3630T>G
XM_011522479.2:c.3935T>G	XP_011520781.1:p.Ile1312Ser
XM_011522481.3:c.3626T>G	XP_011520783.1:p.Ile1209Ser
XM_017023212.1:c.3800T>G	XP_016878701.1:p.Ile1267Ser
XM_024450261.1:c.4004T>G	XP_024306029.1:p.Ile1335Ser
XR_932837.3:n.3949T>G
NM_001171.6:c.3968T>G MANE Select	NP_001162.5:p.Ile1323Ser