Canonical Allele Identifier: CA2210131796

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159502A= , CM000678.2:g.16159502A=	GRCh38
NC_000016.9:g.16253359A= , CM000678.1:g.16253359A=	GRCh37
NC_000016.8:g.16160860A=	NCBI36
NG_007558.2:g.68970T=
NG_007558.3:g.69116T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.3715T= MANE Select	NP_001162.5:p.Tyr1239=
ENST00000205557.12:c.3715T= MANE Select	ENSP00000205557.7:p.Tyr1239=
NM_001171.5:c.3715T=	NP_001162.4:p.Tyr1239=
NM_001351800.1:c.3373T=	NP_001338729.1:p.Tyr1125=
NR_147784.1:n.3377T=
ENST00000205557.11:c.3715T=	ENSP00000205557.7:p.Tyr1239=
ENST00000456970.6:c.3340T=	ENSP00000405002.2:n.3340T=
ENST00000622290.4:c.*924T=	ENSP00000483331.1:n.*924T=
ENST00000622290.5:c.3715T=	ENSP00000483331.2:p.Tyr1239=
ENST00000640696.1:c.529T=	ENSP00000492197.1:p.Tyr177=
XM_011522479.1:c.3682T=	XP_011520781.1:p.Tyr1228=
XM_011522479.2:c.3682T=	XP_011520781.1:p.Tyr1228=
XM_011522480.1:c.3373T=	XP_011520782.1:p.Tyr1125=
XM_011522481.1:c.3373T=	XP_011520783.1:p.Tyr1125=
XM_011522481.3:c.3373T=	XP_011520783.1:p.Tyr1125=
XM_017023212.1:c.3547T=	XP_016878701.1:p.Tyr1183=
XM_024450261.1:c.3751T=	XP_024306029.1:p.Tyr1251=
XR_932836.1:n.3950T=
XR_932836.2:n.3896T=
XR_932837.1:n.3751T=
XR_932837.3:n.3696T=
XR_932838.1:n.3751T=
XR_932838.3:n.3696T=
XR_933134.1:n.539-279A=