Canonical Allele Identifier: CA493799354

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16263543G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169686G>A , CM000678.2:g.16169686G>A	GRCh38
NC_000016.9:g.16263543G>A , CM000678.1:g.16263543G>A	GRCh37
NC_000016.8:g.16171044G>A	NCBI36
NG_007558.2:g.58786C>T
NG_007558.3:g.58932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2955C>T	ENSP00000483331.2:p.Ala985=
ENST00000205557.12:c.2955C>T MANE Select	ENSP00000205557.7:p.Ala985=
ENST00000205557.11:c.2955C>T	ENSP00000205557.7:p.Ala985=
ENST00000456970.6:c.2780C>T	ENSP00000405002.2:n.2780C>T
ENST00000622290.4:c.*164C>T	ENSP00000483331.1:n.*164C>T
NM_001171.5:c.2955C>T	NP_001162.4:p.Ala985=
XM_011522479.1:c.2922C>T	XP_011520781.1:p.Ala974=
XM_011522480.1:c.2613C>T	XP_011520782.1:p.Ala871=
XM_011522481.1:c.2613C>T	XP_011520783.1:p.Ala871=
XR_932836.1:n.3190C>T
XR_932837.1:n.3191C>T
XR_932838.1:n.3191C>T
NM_001351800.1:c.2613C>T	NP_001338729.1:p.Ala871=
NR_147784.1:n.2817C>T
XM_011522479.2:c.2922C>T	XP_011520781.1:p.Ala974=
XM_011522481.3:c.2613C>T	XP_011520783.1:p.Ala871=
XM_017023212.1:c.2787C>T	XP_016878701.1:p.Ala929=
XM_017023214.1:c.2955C>T	XP_016878703.1:p.Ala985=
XM_024450261.1:c.2991C>T	XP_024306029.1:p.Ala997=
XR_932836.2:n.3136C>T
XR_932837.3:n.3136C>T
XR_932838.3:n.3136C>T
NM_001171.6:c.2955C>T MANE Select	NP_001162.5:p.Ala985=