Canonical Allele Identifier: CA2210143328

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169829A= , CM000678.2:g.16169829A=	GRCh38
NC_000016.9:g.16263686A= , CM000678.1:g.16263686A=	GRCh37
NC_000016.8:g.16171187A=	NCBI36
NG_007558.2:g.58643T=
NG_007558.3:g.58789T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2812T=	ENSP00000483331.2:p.Tyr938=
ENST00000205557.12:c.2812T= MANE Select	ENSP00000205557.7:p.Tyr938=
ENST00000205557.11:c.2812T=	ENSP00000205557.7:p.Tyr938=
ENST00000456970.6:c.2637T=	ENSP00000405002.2:n.2637T=
ENST00000622290.4:c.*21T=	ENSP00000483331.1:n.*21T=
NM_001171.5:c.2812T=	NP_001162.4:p.Tyr938=
XM_011522479.1:c.2779T=	XP_011520781.1:p.Tyr927=
XM_011522480.1:c.2470T=	XP_011520782.1:p.Tyr824=
XM_011522481.1:c.2470T=	XP_011520783.1:p.Tyr824=
XR_932836.1:n.3047T=
XR_932837.1:n.3048T=
XR_932838.1:n.3048T=
NM_001351800.1:c.2470T=	NP_001338729.1:p.Tyr824=
NR_147784.1:n.2674T=
XM_011522479.2:c.2779T=	XP_011520781.1:p.Tyr927=
XM_011522481.3:c.2470T=	XP_011520783.1:p.Tyr824=
XM_017023212.1:c.2644T=	XP_016878701.1:p.Tyr882=
XM_017023214.1:c.2812T=	XP_016878703.1:p.Tyr938=
XM_024450261.1:c.2848T=	XP_024306029.1:p.Tyr950=
XR_932836.2:n.2993T=
XR_932837.3:n.2993T=
XR_932838.3:n.2993T=
NM_001171.6:c.2812T= MANE Select	NP_001162.5:p.Tyr938=