Canonical Allele Identifier: CA278671485

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16219636T>C , CM000678.2:g.16219636T>C	GRCh38
NC_000016.9:g.16313493T>C , CM000678.1:g.16313493T>C	GRCh37
NC_000016.8:g.16220994T>C	NCBI36
NG_007558.2:g.8836A>G
NG_007558.3:g.8982A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.392A>G MANE Select	NP_001162.5:p.Gln131Arg
ENST00000205557.12:c.392A>G MANE Select	ENSP00000205557.7:p.Gln131Arg
NM_001171.5:c.392A>G	NP_001162.4:p.Gln131Arg
NM_001351800.1:c.50A>G	NP_001338729.1:p.Gln17Arg
NR_147784.1:n.429A>G
ENST00000205557.11:c.392A>G	ENSP00000205557.7:p.Gln131Arg
ENST00000456970.6:c.392A>G	ENSP00000405002.2:p.Gln131Arg
ENST00000574094.5:n.488A>G
ENST00000574094.6:c.392A>G	ENSP00000507301.1:p.Gln131Arg
ENST00000577103.1:c.*259A>G	ENSP00000459243.1:n.*259A>G
ENST00000622290.4:c.392A>G	ENSP00000483331.1:p.Gln131Arg
ENST00000622290.5:c.392A>G	ENSP00000483331.2:p.Gln131Arg
XM_011522479.1:c.392A>G	XP_011520781.1:p.Gln131Arg
XM_011522479.2:c.392A>G	XP_011520781.1:p.Gln131Arg
XM_011522480.1:c.50A>G	XP_011520782.1:p.Gln17Arg
XM_011522481.1:c.50A>G	XP_011520783.1:p.Gln17Arg
XM_011522481.3:c.50A>G	XP_011520783.1:p.Gln17Arg
XM_011522482.1:c.392A>G	XP_011520784.1:p.Gln131Arg
XM_011522482.3:c.392A>G	XP_011520784.1:p.Gln131Arg
XM_017023212.1:c.392A>G	XP_016878701.1:p.Gln131Arg
XM_017023214.1:c.392A>G	XP_016878703.1:p.Gln131Arg
XM_024450261.1:c.428A>G	XP_024306029.1:p.Gln143Arg
XR_932836.1:n.627A>G
XR_932836.2:n.573A>G
XR_932837.1:n.628A>G
XR_932837.3:n.573A>G
XR_932838.1:n.628A>G
XR_932838.3:n.573A>G