Canonical Allele Identifier: CA2210140480

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154657G= , CM000678.2:g.16154657G=	GRCh38
NC_000016.9:g.16248514G= , CM000678.1:g.16248514G=	GRCh37
NC_000016.8:g.16156015G=	NCBI36
NG_007558.2:g.73815C=
NG_007558.3:g.73961C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*351C=	ENSP00000483331.2:n.*351C=
ENST00000205557.12:c.4179C= MANE Select	ENSP00000205557.7:p.Tyr1393=
ENST00000640696.1:c.993C=	ENSP00000492197.1:p.Tyr331=
ENST00000205557.11:c.4179C=	ENSP00000205557.7:p.Tyr1393=
ENST00000456970.6:c.3804C=	ENSP00000405002.2:n.3804C=
ENST00000576204.5:n.1042C=
ENST00000622290.4:c.*1388C=	ENSP00000483331.1:n.*1388C=
NM_001171.5:c.4179C=	NP_001162.4:p.Tyr1393=
XM_011522479.1:c.4146C=	XP_011520781.1:p.Tyr1382=
XM_011522480.1:c.3837C=	XP_011520782.1:p.Tyr1279=
XM_011522481.1:c.3837C=	XP_011520783.1:p.Tyr1279=
XR_933134.1:n.539-5124G=
NM_001351800.1:c.3837C=	NP_001338729.1:p.Tyr1279=
NR_147784.1:n.3841C=
XM_011522479.2:c.4146C=	XP_011520781.1:p.Tyr1382=
XM_011522481.3:c.3837C=	XP_011520783.1:p.Tyr1279=
XM_017023212.1:c.4011C=	XP_016878701.1:p.Tyr1337=
XM_024450261.1:c.4215C=	XP_024306029.1:p.Tyr1405=
NM_001171.6:c.4179C= MANE Select	NP_001162.5:p.Tyr1393=