Canonical Allele Identifier: CA394876143

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155010C>A , CM000678.2:g.16155010C>A	GRCh38
NC_000016.9:g.16248867C>A , CM000678.1:g.16248867C>A	GRCh37
NC_000016.8:g.16156368C>A	NCBI36
NG_007558.2:g.73462G>T
NG_007558.3:g.73608G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3904G>T MANE Select	NP_001162.5:p.Gly1302Trp
ENST00000205557.12:c.3904G>T MANE Select	ENSP00000205557.7:p.Gly1302Trp
NM_001171.5:c.3904G>T	NP_001162.4:p.Gly1302Trp
NM_001351800.1:c.3562G>T	NP_001338729.1:p.Gly1188Trp
NR_147784.1:n.3566G>T
ENST00000205557.11:c.3904G>T	ENSP00000205557.7:p.Gly1302Trp
ENST00000456970.6:c.3529G>T	ENSP00000405002.2:n.3529G>T
ENST00000576204.5:n.767G>T
ENST00000576204.6:n.767G>T
ENST00000622290.4:c.*1113G>T	ENSP00000483331.1:n.*1113G>T
ENST00000622290.5:c.*76G>T	ENSP00000483331.2:n.*76G>T
ENST00000640696.1:c.718G>T	ENSP00000492197.1:p.Gly240Trp
XM_011522479.1:c.3871G>T	XP_011520781.1:p.Gly1291Trp
XM_011522479.2:c.3871G>T	XP_011520781.1:p.Gly1291Trp
XM_011522480.1:c.3562G>T	XP_011520782.1:p.Gly1188Trp
XM_011522481.1:c.3562G>T	XP_011520783.1:p.Gly1188Trp
XM_011522481.3:c.3562G>T	XP_011520783.1:p.Gly1188Trp
XM_017023212.1:c.3736G>T	XP_016878701.1:p.Gly1246Trp
XM_024450261.1:c.3940G>T	XP_024306029.1:p.Gly1314Trp
XR_932836.1:n.4202G>T
XR_932836.2:n.4148G>T
XR_932837.1:n.3940G>T
XR_932837.3:n.3885G>T
XR_932838.1:n.4003G>T
XR_932838.3:n.3948G>T
XR_933134.1:n.539-4771C>A