Canonical Allele Identifier: CA394875463

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248748C>A (hg19) ; chr16:g.16154891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154891C>A , CM000678.2:g.16154891C>A	GRCh38
NC_000016.9:g.16248748C>A , CM000678.1:g.16248748C>A	GRCh37
NC_000016.8:g.16156249C>A	NCBI36
NG_007558.2:g.73581G>T
NG_007558.3:g.73727G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.886G>T
ENST00000622290.5:c.*195G>T	ENSP00000483331.2:n.*195G>T
ENST00000205557.12:c.4023G>T MANE Select	ENSP00000205557.7:p.Arg1341Ser
ENST00000640696.1:c.837G>T	ENSP00000492197.1:p.Arg279Ser
ENST00000205557.11:c.4023G>T	ENSP00000205557.7:p.Arg1341Ser
ENST00000456970.6:c.3648G>T	ENSP00000405002.2:n.3648G>T
ENST00000576204.5:n.886G>T
ENST00000622290.4:c.*1232G>T	ENSP00000483331.1:n.*1232G>T
NM_001171.5:c.4023G>T	NP_001162.4:p.Arg1341Ser
XM_011522479.1:c.3990G>T	XP_011520781.1:p.Arg1330Ser
XM_011522480.1:c.3681G>T	XP_011520782.1:p.Arg1227Ser
XM_011522481.1:c.3681G>T	XP_011520783.1:p.Arg1227Ser
XR_933134.1:n.539-4890C>A
NM_001351800.1:c.3681G>T	NP_001338729.1:p.Arg1227Ser
NR_147784.1:n.3685G>T
XM_011522479.2:c.3990G>T	XP_011520781.1:p.Arg1330Ser
XM_011522481.3:c.3681G>T	XP_011520783.1:p.Arg1227Ser
XM_017023212.1:c.3855G>T	XP_016878701.1:p.Arg1285Ser
XM_024450261.1:c.4059G>T	XP_024306029.1:p.Arg1353Ser
NM_001171.6:c.4023G>T MANE Select	NP_001162.5:p.Arg1341Ser