Canonical Allele Identifier: CA394883457

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244005C>A (hg19) ; chr16:g.16150148C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150148C>A , CM000678.2:g.16150148C>A	GRCh38
NC_000016.9:g.16244005C>A , CM000678.1:g.16244005C>A	GRCh37
NC_000016.8:g.16151506C>A	NCBI36
NG_007558.2:g.78324G>T
NG_007558.3:g.78470G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*669G>T	ENSP00000483331.2:n.*669G>T
ENST00000205557.12:c.4497G>T MANE Select	ENSP00000205557.7:p.Glu1499Asp
ENST00000640696.1:c.1311G>T	ENSP00000492197.1:p.Glu437Asp
ENST00000205557.11:c.4497G>T	ENSP00000205557.7:p.Glu1499Asp
ENST00000456970.6:c.4122G>T	ENSP00000405002.2:n.4122G>T
ENST00000576204.5:n.1360G>T
ENST00000622290.4:c.*1706G>T	ENSP00000483331.1:n.*1706G>T
NM_001171.5:c.4497G>T	NP_001162.4:p.Glu1499Asp
XM_011522479.1:c.4464G>T	XP_011520781.1:p.Glu1488Asp
XM_011522480.1:c.4155G>T	XP_011520782.1:p.Glu1385Asp
XM_011522481.1:c.4155G>T	XP_011520783.1:p.Glu1385Asp
XR_933134.1:n.538+5858C>A
NM_001351800.1:c.4155G>T	NP_001338729.1:p.Glu1385Asp
NR_147784.1:n.4159G>T
XM_011522479.2:c.4464G>T	XP_011520781.1:p.Glu1488Asp
XM_011522481.3:c.4155G>T	XP_011520783.1:p.Glu1385Asp
XM_017023212.1:c.4329G>T	XP_016878701.1:p.Glu1443Asp
XM_024450261.1:c.4533G>T	XP_024306029.1:p.Glu1511Asp
NM_001171.6:c.4497G>T MANE Select	NP_001162.5:p.Glu1499Asp