Canonical Allele Identifier: CA493798962

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16256900A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163043A>G , CM000678.2:g.16163043A>G	GRCh38
NC_000016.9:g.16256900A>G , CM000678.1:g.16256900A>G	GRCh37
NC_000016.8:g.16164401A>G	NCBI36
NG_007558.2:g.65429T>C
NG_007558.3:g.65575T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3456T>C	ENSP00000483331.2:p.Ala1152=
ENST00000205557.12:c.3456T>C MANE Select	ENSP00000205557.7:p.Ala1152=
ENST00000640696.1:c.321-1479T>C	ENSP00000492197.1:n.321-1479T>C
ENST00000205557.11:c.3456T>C	ENSP00000205557.7:p.Ala1152=
ENST00000456970.6:c.3132-1479T>C	ENSP00000405002.2:n.3132-1479T>C
ENST00000622290.4:c.*665T>C	ENSP00000483331.1:n.*665T>C
NM_001171.5:c.3456T>C	NP_001162.4:p.Ala1152=
XM_011522479.1:c.3423T>C	XP_011520781.1:p.Ala1141=
XM_011522480.1:c.3114T>C	XP_011520782.1:p.Ala1038=
XM_011522481.1:c.3114T>C	XP_011520783.1:p.Ala1038=
XR_932836.1:n.3691T>C
XR_932837.1:n.3543-1479T>C
XR_932838.1:n.3543-1479T>C
XR_933133.1:n.407+200A>G
XR_933134.1:n.754+200A>G
NM_001351800.1:c.3114T>C	NP_001338729.1:p.Ala1038=
NR_147784.1:n.3169-1479T>C
XM_011522479.2:c.3423T>C	XP_011520781.1:p.Ala1141=
XM_011522481.3:c.3114T>C	XP_011520783.1:p.Ala1038=
XM_017023212.1:c.3288T>C	XP_016878701.1:p.Ala1096=
XM_017023214.1:c.3307-1479T>C	XP_016878703.1:n.3307-1479T>C
XM_024450261.1:c.3492T>C	XP_024306029.1:p.Ala1164=
XR_932836.2:n.3637T>C
XR_932837.3:n.3488-1479T>C
XR_932838.3:n.3488-1479T>C
NM_001171.6:c.3456T>C MANE Select	NP_001162.5:p.Ala1152=