Canonical Allele Identifier: CA2631961766

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16159409-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159409G>A , CM000678.2:g.16159409G>A	GRCh38
NC_000016.9:g.16253266G>A , CM000678.1:g.16253266G>A	GRCh37
NC_000016.8:g.16160767G>A	NCBI36
NG_007558.2:g.69063C>T
NG_007558.3:g.69209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.3735+73C>T	ENSP00000483331.2:n.3735+73C>T
ENST00000205557.12:c.3735+73C>T MANE Select	ENSP00000205557.7:n.3735+73C>T
ENST00000640696.1:c.549+73C>T	ENSP00000492197.1:n.549+73C>T
ENST00000205557.11:c.3735+73C>T	ENSP00000205557.7:n.3735+73C>T
ENST00000456970.6:c.3360+73C>T	ENSP00000405002.2:n.3360+73C>T
ENST00000622290.4:c.*944+73C>T	ENSP00000483331.1:n.*944+73C>T
NM_001171.5:c.3735+73C>T	NP_001162.4:n.3735+73C>T
XM_011522479.1:c.3702+73C>T	XP_011520781.1:n.3702+73C>T
XM_011522480.1:c.3393+73C>T	XP_011520782.1:n.3393+73C>T
XM_011522481.1:c.3393+73C>T	XP_011520783.1:n.3393+73C>T
XR_932836.1:n.3970+73C>T
XR_932837.1:n.3771+73C>T
XR_932838.1:n.3771+73C>T
XR_933134.1:n.539-372G>A
NM_001351800.1:c.3393+73C>T	NP_001338729.1:n.3393+73C>T
NR_147784.1:n.3397+73C>T
XM_011522479.2:c.3702+73C>T	XP_011520781.1:n.3702+73C>T
XM_011522481.3:c.3393+73C>T	XP_011520783.1:n.3393+73C>T
XM_017023212.1:c.3567+73C>T	XP_016878701.1:n.3567+73C>T
XM_024450261.1:c.3771+73C>T	XP_024306029.1:n.3771+73C>T
XR_932836.2:n.3916+73C>T
XR_932837.3:n.3716+73C>T
XR_932838.3:n.3716+73C>T
NM_001171.6:c.3735+73C>T MANE Select	NP_001162.5:n.3735+73C>T