Canonical Allele Identifier: CA493799553

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244584C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150727C>A , CM000678.2:g.16150727C>A	GRCh38
NC_000016.9:g.16244584C>A , CM000678.1:g.16244584C>A	GRCh37
NC_000016.8:g.16152085C>A	NCBI36
NG_007558.2:g.77745G>T
NG_007558.3:g.77891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*426G>T	ENSP00000483331.2:n.*426G>T
ENST00000205557.12:c.4254G>T MANE Select	ENSP00000205557.7:p.Arg1418=
ENST00000640696.1:c.1068G>T	ENSP00000492197.1:p.Arg356=
ENST00000205557.11:c.4254G>T	ENSP00000205557.7:p.Arg1418=
ENST00000456970.6:c.3879G>T	ENSP00000405002.2:n.3879G>T
ENST00000576204.5:n.1117G>T
ENST00000622290.4:c.*1463G>T	ENSP00000483331.1:n.*1463G>T
NM_001171.5:c.4254G>T	NP_001162.4:p.Arg1418=
XM_011522479.1:c.4221G>T	XP_011520781.1:p.Arg1407=
XM_011522480.1:c.3912G>T	XP_011520782.1:p.Arg1304=
XM_011522481.1:c.3912G>T	XP_011520783.1:p.Arg1304=
XR_933134.1:n.538+6437C>A
NM_001351800.1:c.3912G>T	NP_001338729.1:p.Arg1304=
NR_147784.1:n.3916G>T
XM_011522479.2:c.4221G>T	XP_011520781.1:p.Arg1407=
XM_011522481.3:c.3912G>T	XP_011520783.1:p.Arg1304=
XM_017023212.1:c.4086G>T	XP_016878701.1:p.Arg1362=
XM_024450261.1:c.4290G>T	XP_024306029.1:p.Arg1430=
NM_001171.6:c.4254G>T MANE Select	NP_001162.5:p.Arg1418=