Canonical Allele Identifier: CA394883702

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244453G>T (hg19) ; chr16:g.16150596G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150596G>T , CM000678.2:g.16150596G>T	GRCh38
NC_000016.9:g.16244453G>T , CM000678.1:g.16244453G>T	GRCh37
NC_000016.8:g.16151954G>T	NCBI36
NG_007558.2:g.77876C>A
NG_007558.3:g.78022C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*557C>A	ENSP00000483331.2:n.*557C>A
ENST00000205557.12:c.4385C>A MANE Select	ENSP00000205557.7:p.Ser1462Tyr
ENST00000640696.1:c.1199C>A	ENSP00000492197.1:p.Ser400Tyr
ENST00000205557.11:c.4385C>A	ENSP00000205557.7:p.Ser1462Tyr
ENST00000456970.6:c.4010C>A	ENSP00000405002.2:n.4010C>A
ENST00000576204.5:n.1248C>A
ENST00000622290.4:c.*1594C>A	ENSP00000483331.1:n.*1594C>A
NM_001171.5:c.4385C>A	NP_001162.4:p.Ser1462Tyr
XM_011522479.1:c.4352C>A	XP_011520781.1:p.Ser1451Tyr
XM_011522480.1:c.4043C>A	XP_011520782.1:p.Ser1348Tyr
XM_011522481.1:c.4043C>A	XP_011520783.1:p.Ser1348Tyr
XR_933134.1:n.538+6306G>T
NM_001351800.1:c.4043C>A	NP_001338729.1:p.Ser1348Tyr
NR_147784.1:n.4047C>A
XM_011522479.2:c.4352C>A	XP_011520781.1:p.Ser1451Tyr
XM_011522481.3:c.4043C>A	XP_011520783.1:p.Ser1348Tyr
XM_017023212.1:c.4217C>A	XP_016878701.1:p.Ser1406Tyr
XM_024450261.1:c.4421C>A	XP_024306029.1:p.Ser1474Tyr
NM_001171.6:c.4385C>A MANE Select	NP_001162.5:p.Ser1462Tyr