Canonical Allele Identifier: CA394884771

Gene: ABCC6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154767G>C , CM000678.2:g.16154767G>C	GRCh38
NC_000016.9:g.16248624G>C , CM000678.1:g.16248624G>C	GRCh37
NC_000016.8:g.16156125G>C	NCBI36
NG_007558.2:g.73705C>G
NG_007558.3:g.73851C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001171.6:c.4069C>G MANE Select	NP_001162.5:p.Arg1357Gly
ENST00000205557.12:c.4069C>G MANE Select	ENSP00000205557.7:p.Arg1357Gly
NM_001171.5:c.4069C>G	NP_001162.4:p.Arg1357Gly
NM_001351800.1:c.3727C>G	NP_001338729.1:p.Arg1243Gly
NR_147784.1:n.3731C>G
ENST00000205557.11:c.4069C>G	ENSP00000205557.7:p.Arg1357Gly
ENST00000456970.6:c.3694C>G	ENSP00000405002.2:n.3694C>G
ENST00000576204.5:n.932C>G
ENST00000576204.6:n.932C>G
ENST00000622290.4:c.*1278C>G	ENSP00000483331.1:n.*1278C>G
ENST00000622290.5:c.*241C>G	ENSP00000483331.2:n.*241C>G
ENST00000640696.1:c.883C>G	ENSP00000492197.1:p.Arg295Gly
XM_011522479.1:c.4036C>G	XP_011520781.1:p.Arg1346Gly
XM_011522479.2:c.4036C>G	XP_011520781.1:p.Arg1346Gly
XM_011522480.1:c.3727C>G	XP_011520782.1:p.Arg1243Gly
XM_011522481.1:c.3727C>G	XP_011520783.1:p.Arg1243Gly
XM_011522481.3:c.3727C>G	XP_011520783.1:p.Arg1243Gly
XM_017023212.1:c.3901C>G	XP_016878701.1:p.Arg1301Gly
XM_024450261.1:c.4105C>G	XP_024306029.1:p.Arg1369Gly
XR_933134.1:n.539-5014G>C