Canonical Allele Identifier: CA394882923

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259557T>A (hg19) ; chr16:g.16165700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165700T>A , CM000678.2:g.16165700T>A	GRCh38
NC_000016.9:g.16259557T>A , CM000678.1:g.16259557T>A	GRCh37
NC_000016.8:g.16167058T>A	NCBI36
NG_007558.2:g.62772A>T
NG_007558.3:g.62918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3229A>T	ENSP00000483331.2:p.Ser1077Cys
ENST00000205557.12:c.3229A>T MANE Select	ENSP00000205557.7:p.Ser1077Cys
ENST00000640696.1:c.244A>T	ENSP00000492197.1:p.Ser82Cys
ENST00000205557.11:c.3229A>T	ENSP00000205557.7:p.Ser1077Cys
ENST00000456970.6:c.3054A>T	ENSP00000405002.2:n.3054A>T
ENST00000622290.4:c.*438A>T	ENSP00000483331.1:n.*438A>T
NM_001171.5:c.3229A>T	NP_001162.4:p.Ser1077Cys
XM_011522479.1:c.3196A>T	XP_011520781.1:p.Ser1066Cys
XM_011522480.1:c.2887A>T	XP_011520782.1:p.Ser963Cys
XM_011522481.1:c.2887A>T	XP_011520783.1:p.Ser963Cys
XR_932836.1:n.3464A>T
XR_932837.1:n.3465A>T
XR_932838.1:n.3465A>T
NM_001351800.1:c.2887A>T	NP_001338729.1:p.Ser963Cys
NR_147784.1:n.3091A>T
XM_011522479.2:c.3196A>T	XP_011520781.1:p.Ser1066Cys
XM_011522481.3:c.2887A>T	XP_011520783.1:p.Ser963Cys
XM_017023212.1:c.3061A>T	XP_016878701.1:p.Ser1021Cys
XM_017023214.1:c.3229A>T	XP_016878703.1:p.Ser1077Cys
XM_024450261.1:c.3265A>T	XP_024306029.1:p.Ser1089Cys
XR_932836.2:n.3410A>T
XR_932837.3:n.3410A>T
XR_932838.3:n.3410A>T
NM_001171.6:c.3229A>T MANE Select	NP_001162.5:p.Ser1077Cys