Canonical Allele Identifier: CA394884811

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154781-A-T
• MyVariant Identifiers: chr16:g.16248638A>T (hg19) ; chr16:g.16154781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154781A>T , CM000678.2:g.16154781A>T	GRCh38
NC_000016.9:g.16248638A>T , CM000678.1:g.16248638A>T	GRCh37
NC_000016.8:g.16156139A>T	NCBI36
NG_007558.2:g.73691T>A
NG_007558.3:g.73837T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.918T>A
ENST00000622290.5:c.*227T>A	ENSP00000483331.2:n.*227T>A
ENST00000205557.12:c.4055T>A MANE Select	ENSP00000205557.7:p.Phe1352Tyr
ENST00000640696.1:c.869T>A	ENSP00000492197.1:p.Phe290Tyr
ENST00000205557.11:c.4055T>A	ENSP00000205557.7:p.Phe1352Tyr
ENST00000456970.6:c.3680T>A	ENSP00000405002.2:n.3680T>A
ENST00000576204.5:n.918T>A
ENST00000622290.4:c.*1264T>A	ENSP00000483331.1:n.*1264T>A
NM_001171.5:c.4055T>A	NP_001162.4:p.Phe1352Tyr
XM_011522479.1:c.4022T>A	XP_011520781.1:p.Phe1341Tyr
XM_011522480.1:c.3713T>A	XP_011520782.1:p.Phe1238Tyr
XM_011522481.1:c.3713T>A	XP_011520783.1:p.Phe1238Tyr
XR_933134.1:n.539-5000A>T
NM_001351800.1:c.3713T>A	NP_001338729.1:p.Phe1238Tyr
NR_147784.1:n.3717T>A
XM_011522479.2:c.4022T>A	XP_011520781.1:p.Phe1341Tyr
XM_011522481.3:c.3713T>A	XP_011520783.1:p.Phe1238Tyr
XM_017023212.1:c.3887T>A	XP_016878701.1:p.Phe1296Tyr
XM_024450261.1:c.4091T>A	XP_024306029.1:p.Phe1364Tyr
NM_001171.6:c.4055T>A MANE Select	NP_001162.5:p.Phe1352Tyr