Canonical Allele Identifier: CA2575924523

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150079A>C , CM000678.2:g.16150079A>C	GRCh38
NC_000016.9:g.16243936A>C , CM000678.1:g.16243936A>C	GRCh37
NC_000016.8:g.16151437A>C	NCBI36
NG_007558.2:g.78393T>G
NG_007558.3:g.78539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*738T>G	ENSP00000483331.2:n.*738T>G
ENST00000205557.12:c.*54T>G MANE Select	ENSP00000205557.7:n.*54T>G
ENST00000640696.1:c.1380T>G	ENSP00000492197.1:n.1380T>G
ENST00000205557.11:c.*54T>G	ENSP00000205557.7:n.*54T>G
ENST00000576204.5:n.1429T>G
ENST00000622290.4:c.*1775T>G	ENSP00000483331.1:n.*1775T>G
NM_001171.5:c.*54T>G	NP_001162.4:n.*54T>G
XM_011522479.1:c.*54T>G	XP_011520781.1:n.*54T>G
XM_011522480.1:c.*54T>G	XP_011520782.1:n.*54T>G
XM_011522481.1:c.*54T>G	XP_011520783.1:n.*54T>G
XR_933134.1:n.538+5789A>C
NM_001351800.1:c.*54T>G	NP_001338729.1:n.*54T>G
NR_147784.1:n.4228T>G
XM_011522479.2:c.*54T>G	XP_011520781.1:n.*54T>G
XM_011522481.3:c.*54T>G	XP_011520783.1:n.*54T>G
XM_017023212.1:c.*54T>G	XP_016878701.1:n.*54T>G
XM_024450261.1:c.*54T>G	XP_024306029.1:n.*54T>G
NM_001171.6:c.*54T>G MANE Select	NP_001162.5:n.*54T>G