Canonical Allele Identifier: CA2631961516

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150004-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150004C>T , CM000678.2:g.16150004C>T	GRCh38
NC_000016.9:g.16243861C>T , CM000678.1:g.16243861C>T	GRCh37
NC_000016.8:g.16151362C>T	NCBI36
NG_007558.2:g.78468G>A
NG_007558.3:g.78614G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*813G>A	ENSP00000483331.2:n.*813G>A
ENST00000205557.12:c.*129G>A MANE Select	ENSP00000205557.7:n.*129G>A
ENST00000640696.1:c.1455G>A	ENSP00000492197.1:n.1455G>A
ENST00000205557.11:c.*129G>A	ENSP00000205557.7:n.*129G>A
ENST00000576204.5:n.1504G>A
ENST00000622290.4:c.*1850G>A	ENSP00000483331.1:n.*1850G>A
NM_001171.5:c.*129G>A	NP_001162.4:n.*129G>A
XM_011522479.1:c.*129G>A	XP_011520781.1:n.*129G>A
XM_011522480.1:c.*129G>A	XP_011520782.1:n.*129G>A
XM_011522481.1:c.*129G>A	XP_011520783.1:n.*129G>A
XR_933134.1:n.538+5714C>T
NM_001351800.1:c.*129G>A	NP_001338729.1:n.*129G>A
NR_147784.1:n.4303G>A
XM_011522479.2:c.*129G>A	XP_011520781.1:n.*129G>A
XM_011522481.3:c.*129G>A	XP_011520783.1:n.*129G>A
XM_017023212.1:c.*129G>A	XP_016878701.1:n.*129G>A
XM_024450261.1:c.*129G>A	XP_024306029.1:n.*129G>A
NM_001171.6:c.*129G>A MANE Select	NP_001162.5:n.*129G>A