Canonical Allele Identifier: CA394884681

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248596T>A (hg19) ; chr16:g.16154739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154739T>A , CM000678.2:g.16154739T>A	GRCh38
NC_000016.9:g.16248596T>A , CM000678.1:g.16248596T>A	GRCh37
NC_000016.8:g.16156097T>A	NCBI36
NG_007558.2:g.73733A>T
NG_007558.3:g.73879A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.960A>T
ENST00000622290.5:c.*269A>T	ENSP00000483331.2:n.*269A>T
ENST00000205557.12:c.4097A>T MANE Select	ENSP00000205557.7:p.His1366Leu
ENST00000640696.1:c.911A>T	ENSP00000492197.1:p.His304Leu
ENST00000205557.11:c.4097A>T	ENSP00000205557.7:p.His1366Leu
ENST00000456970.6:c.3722A>T	ENSP00000405002.2:n.3722A>T
ENST00000576204.5:n.960A>T
ENST00000622290.4:c.*1306A>T	ENSP00000483331.1:n.*1306A>T
NM_001171.5:c.4097A>T	NP_001162.4:p.His1366Leu
XM_011522479.1:c.4064A>T	XP_011520781.1:p.His1355Leu
XM_011522480.1:c.3755A>T	XP_011520782.1:p.His1252Leu
XM_011522481.1:c.3755A>T	XP_011520783.1:p.His1252Leu
XR_933134.1:n.539-5042T>A
NM_001351800.1:c.3755A>T	NP_001338729.1:p.His1252Leu
NR_147784.1:n.3759A>T
XM_011522479.2:c.4064A>T	XP_011520781.1:p.His1355Leu
XM_011522481.3:c.3755A>T	XP_011520783.1:p.His1252Leu
XM_017023212.1:c.3929A>T	XP_016878701.1:p.His1310Leu
XM_024450261.1:c.4133A>T	XP_024306029.1:p.His1378Leu
NM_001171.6:c.4097A>T MANE Select	NP_001162.5:p.His1366Leu