Canonical Allele Identifier: CA394884253

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263512A>G (hg19) ; chr16:g.16169655A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169655A>G , CM000678.2:g.16169655A>G	GRCh38
NC_000016.9:g.16263512A>G , CM000678.1:g.16263512A>G	GRCh37
NC_000016.8:g.16171013A>G	NCBI36
NG_007558.2:g.58817T>C
NG_007558.3:g.58963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2986T>C	ENSP00000483331.2:p.Cys996Arg
ENST00000205557.12:c.2986T>C MANE Select	ENSP00000205557.7:p.Cys996Arg
ENST00000205557.11:c.2986T>C	ENSP00000205557.7:p.Cys996Arg
ENST00000456970.6:c.2811T>C	ENSP00000405002.2:n.2811T>C
ENST00000622290.4:c.*195T>C	ENSP00000483331.1:n.*195T>C
NM_001171.5:c.2986T>C	NP_001162.4:p.Cys996Arg
XM_011522479.1:c.2953T>C	XP_011520781.1:p.Cys985Arg
XM_011522480.1:c.2644T>C	XP_011520782.1:p.Cys882Arg
XM_011522481.1:c.2644T>C	XP_011520783.1:p.Cys882Arg
XR_932836.1:n.3221T>C
XR_932837.1:n.3222T>C
XR_932838.1:n.3222T>C
NM_001351800.1:c.2644T>C	NP_001338729.1:p.Cys882Arg
NR_147784.1:n.2848T>C
XM_011522479.2:c.2953T>C	XP_011520781.1:p.Cys985Arg
XM_011522481.3:c.2644T>C	XP_011520783.1:p.Cys882Arg
XM_017023212.1:c.2818T>C	XP_016878701.1:p.Cys940Arg
XM_017023214.1:c.2986T>C	XP_016878703.1:p.Cys996Arg
XM_024450261.1:c.3022T>C	XP_024306029.1:p.Cys1008Arg
XR_932836.2:n.3167T>C
XR_932837.3:n.3167T>C
XR_932838.3:n.3167T>C
NM_001171.6:c.2986T>C MANE Select	NP_001162.5:p.Cys996Arg