Canonical Allele Identifier: CA493797407

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154993-G-T
• MyVariant Identifiers: chr16:g.16248850G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154993G>T , CM000678.2:g.16154993G>T	GRCh38
NC_000016.9:g.16248850G>T , CM000678.1:g.16248850G>T	GRCh37
NC_000016.8:g.16156351G>T	NCBI36
NG_007558.2:g.73479C>A
NG_007558.3:g.73625C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.784C>A
ENST00000622290.5:c.*93C>A	ENSP00000483331.2:n.*93C>A
ENST00000205557.12:c.3921C>A MANE Select	ENSP00000205557.7:p.Ser1307=
ENST00000640696.1:c.735C>A	ENSP00000492197.1:p.Ser245=
ENST00000205557.11:c.3921C>A	ENSP00000205557.7:p.Ser1307=
ENST00000456970.6:c.3546C>A	ENSP00000405002.2:n.3546C>A
ENST00000576204.5:n.784C>A
ENST00000622290.4:c.*1130C>A	ENSP00000483331.1:n.*1130C>A
NM_001171.5:c.3921C>A	NP_001162.4:p.Ser1307=
XM_011522479.1:c.3888C>A	XP_011520781.1:p.Ser1296=
XM_011522480.1:c.3579C>A	XP_011520782.1:p.Ser1193=
XM_011522481.1:c.3579C>A	XP_011520783.1:p.Ser1193=
XR_932836.1:n.4219C>A
XR_932837.1:n.3957C>A
XR_932838.1:n.4020C>A
XR_933134.1:n.539-4788G>T
NM_001351800.1:c.3579C>A	NP_001338729.1:p.Ser1193=
NR_147784.1:n.3583C>A
XM_011522479.2:c.3888C>A	XP_011520781.1:p.Ser1296=
XM_011522481.3:c.3579C>A	XP_011520783.1:p.Ser1193=
XM_017023212.1:c.3753C>A	XP_016878701.1:p.Ser1251=
XM_024450261.1:c.3957C>A	XP_024306029.1:p.Ser1319=
XR_932836.2:n.4165C>A
XR_932837.3:n.3902C>A
XR_932838.3:n.3965C>A
NM_001171.6:c.3921C>A MANE Select	NP_001162.5:p.Ser1307=