Canonical Allele Identifier: CA394875685

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248801A>T (hg19) ; chr16:g.16154944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154944A>T , CM000678.2:g.16154944A>T	GRCh38
NC_000016.9:g.16248801A>T , CM000678.1:g.16248801A>T	GRCh37
NC_000016.8:g.16156302A>T	NCBI36
NG_007558.2:g.73528T>A
NG_007558.3:g.73674T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.833T>A
ENST00000622290.5:c.*142T>A	ENSP00000483331.2:n.*142T>A
ENST00000205557.12:c.3970T>A MANE Select	ENSP00000205557.7:p.Trp1324Arg
ENST00000640696.1:c.784T>A	ENSP00000492197.1:p.Trp262Arg
ENST00000205557.11:c.3970T>A	ENSP00000205557.7:p.Trp1324Arg
ENST00000456970.6:c.3595T>A	ENSP00000405002.2:n.3595T>A
ENST00000576204.5:n.833T>A
ENST00000622290.4:c.*1179T>A	ENSP00000483331.1:n.*1179T>A
NM_001171.5:c.3970T>A	NP_001162.4:p.Trp1324Arg
XM_011522479.1:c.3937T>A	XP_011520781.1:p.Trp1313Arg
XM_011522480.1:c.3628T>A	XP_011520782.1:p.Trp1210Arg
XM_011522481.1:c.3628T>A	XP_011520783.1:p.Trp1210Arg
XR_932837.1:n.4006T>A
XR_933134.1:n.539-4837A>T
NM_001351800.1:c.3628T>A	NP_001338729.1:p.Trp1210Arg
NR_147784.1:n.3632T>A
XM_011522479.2:c.3937T>A	XP_011520781.1:p.Trp1313Arg
XM_011522481.3:c.3628T>A	XP_011520783.1:p.Trp1210Arg
XM_017023212.1:c.3802T>A	XP_016878701.1:p.Trp1268Arg
XM_024450261.1:c.4006T>A	XP_024306029.1:p.Trp1336Arg
XR_932837.3:n.3951T>A
NM_001171.6:c.3970T>A MANE Select	NP_001162.5:p.Trp1324Arg