Canonical Allele Identifier: CA394884881

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263643A>T (hg19) ; chr16:g.16169786A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169786A>T , CM000678.2:g.16169786A>T	GRCh38
NC_000016.9:g.16263643A>T , CM000678.1:g.16263643A>T	GRCh37
NC_000016.8:g.16171144A>T	NCBI36
NG_007558.2:g.58686T>A
NG_007558.3:g.58832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2855T>A	ENSP00000483331.2:p.Phe952Tyr
ENST00000205557.12:c.2855T>A MANE Select	ENSP00000205557.7:p.Phe952Tyr
ENST00000205557.11:c.2855T>A	ENSP00000205557.7:p.Phe952Tyr
ENST00000456970.6:c.2680T>A	ENSP00000405002.2:n.2680T>A
ENST00000622290.4:c.*64T>A	ENSP00000483331.1:n.*64T>A
NM_001171.5:c.2855T>A	NP_001162.4:p.Phe952Tyr
XM_011522479.1:c.2822T>A	XP_011520781.1:p.Phe941Tyr
XM_011522480.1:c.2513T>A	XP_011520782.1:p.Phe838Tyr
XM_011522481.1:c.2513T>A	XP_011520783.1:p.Phe838Tyr
XR_932836.1:n.3090T>A
XR_932837.1:n.3091T>A
XR_932838.1:n.3091T>A
NM_001351800.1:c.2513T>A	NP_001338729.1:p.Phe838Tyr
NR_147784.1:n.2717T>A
XM_011522479.2:c.2822T>A	XP_011520781.1:p.Phe941Tyr
XM_011522481.3:c.2513T>A	XP_011520783.1:p.Phe838Tyr
XM_017023212.1:c.2687T>A	XP_016878701.1:p.Phe896Tyr
XM_017023214.1:c.2855T>A	XP_016878703.1:p.Phe952Tyr
XM_024450261.1:c.2891T>A	XP_024306029.1:p.Phe964Tyr
XR_932836.2:n.3036T>A
XR_932837.3:n.3036T>A
XR_932838.3:n.3036T>A
NM_001171.6:c.2855T>A MANE Select	NP_001162.5:p.Phe952Tyr