Canonical Allele Identifier: CA493797372

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154981-C-T
• MyVariant Identifiers: chr16:g.16248838C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154981C>T , CM000678.2:g.16154981C>T	GRCh38
NC_000016.9:g.16248838C>T , CM000678.1:g.16248838C>T	GRCh37
NC_000016.8:g.16156339C>T	NCBI36
NG_007558.2:g.73491G>A
NG_007558.3:g.73637G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.796G>A
ENST00000622290.5:c.*105G>A	ENSP00000483331.2:n.*105G>A
ENST00000205557.12:c.3933G>A MANE Select	ENSP00000205557.7:p.Gly1311=
ENST00000640696.1:c.747G>A	ENSP00000492197.1:p.Gly249=
ENST00000205557.11:c.3933G>A	ENSP00000205557.7:p.Gly1311=
ENST00000456970.6:c.3558G>A	ENSP00000405002.2:n.3558G>A
ENST00000576204.5:n.796G>A
ENST00000622290.4:c.*1142G>A	ENSP00000483331.1:n.*1142G>A
NM_001171.5:c.3933G>A	NP_001162.4:p.Gly1311=
XM_011522479.1:c.3900G>A	XP_011520781.1:p.Gly1300=
XM_011522480.1:c.3591G>A	XP_011520782.1:p.Gly1197=
XM_011522481.1:c.3591G>A	XP_011520783.1:p.Gly1197=
XR_932836.1:n.4231G>A
XR_932837.1:n.3969G>A
XR_932838.1:n.4032G>A
XR_933134.1:n.539-4800C>T
NM_001351800.1:c.3591G>A	NP_001338729.1:p.Gly1197=
NR_147784.1:n.3595G>A
XM_011522479.2:c.3900G>A	XP_011520781.1:p.Gly1300=
XM_011522481.3:c.3591G>A	XP_011520783.1:p.Gly1197=
XM_017023212.1:c.3765G>A	XP_016878701.1:p.Gly1255=
XM_024450261.1:c.3969G>A	XP_024306029.1:p.Gly1323=
XR_932836.2:n.4177G>A
XR_932837.3:n.3914G>A
XR_932838.3:n.3977G>A
NM_001171.6:c.3933G>A MANE Select	NP_001162.5:p.Gly1311=