Canonical Allele Identifier: CA394882944

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16259561C>A (hg19) ; chr16:g.16165704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165704C>A , CM000678.2:g.16165704C>A	GRCh38
NC_000016.9:g.16259561C>A , CM000678.1:g.16259561C>A	GRCh37
NC_000016.8:g.16167062C>A	NCBI36
NG_007558.2:g.62768G>T
NG_007558.3:g.62914G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3225G>T	ENSP00000483331.2:p.Glu1075Asp
ENST00000205557.12:c.3225G>T MANE Select	ENSP00000205557.7:p.Glu1075Asp
ENST00000640696.1:c.240G>T	ENSP00000492197.1:p.Glu80Asp
ENST00000205557.11:c.3225G>T	ENSP00000205557.7:p.Glu1075Asp
ENST00000456970.6:c.3050G>T	ENSP00000405002.2:n.3050G>T
ENST00000622290.4:c.*434G>T	ENSP00000483331.1:n.*434G>T
NM_001171.5:c.3225G>T	NP_001162.4:p.Glu1075Asp
XM_011522479.1:c.3192G>T	XP_011520781.1:p.Glu1064Asp
XM_011522480.1:c.2883G>T	XP_011520782.1:p.Glu961Asp
XM_011522481.1:c.2883G>T	XP_011520783.1:p.Glu961Asp
XR_932836.1:n.3460G>T
XR_932837.1:n.3461G>T
XR_932838.1:n.3461G>T
NM_001351800.1:c.2883G>T	NP_001338729.1:p.Glu961Asp
NR_147784.1:n.3087G>T
XM_011522479.2:c.3192G>T	XP_011520781.1:p.Glu1064Asp
XM_011522481.3:c.2883G>T	XP_011520783.1:p.Glu961Asp
XM_017023212.1:c.3057G>T	XP_016878701.1:p.Glu1019Asp
XM_017023214.1:c.3225G>T	XP_016878703.1:p.Glu1075Asp
XM_024450261.1:c.3261G>T	XP_024306029.1:p.Glu1087Asp
XR_932836.2:n.3406G>T
XR_932837.3:n.3406G>T
XR_932838.3:n.3406G>T
NM_001171.6:c.3225G>T MANE Select	NP_001162.5:p.Glu1075Asp