Canonical Allele Identifier: CA394884730

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248611T>G (hg19) ; chr16:g.16154754T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154754T>G , CM000678.2:g.16154754T>G	GRCh38
NC_000016.9:g.16248611T>G , CM000678.1:g.16248611T>G	GRCh37
NC_000016.8:g.16156112T>G	NCBI36
NG_007558.2:g.73718A>C
NG_007558.3:g.73864A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.945A>C
ENST00000622290.5:c.*254A>C	ENSP00000483331.2:n.*254A>C
ENST00000205557.12:c.4082A>C MANE Select	ENSP00000205557.7:p.Asp1361Ala
ENST00000640696.1:c.896A>C	ENSP00000492197.1:p.Asp299Ala
ENST00000205557.11:c.4082A>C	ENSP00000205557.7:p.Asp1361Ala
ENST00000456970.6:c.3707A>C	ENSP00000405002.2:n.3707A>C
ENST00000576204.5:n.945A>C
ENST00000622290.4:c.*1291A>C	ENSP00000483331.1:n.*1291A>C
NM_001171.5:c.4082A>C	NP_001162.4:p.Asp1361Ala
XM_011522479.1:c.4049A>C	XP_011520781.1:p.Asp1350Ala
XM_011522480.1:c.3740A>C	XP_011520782.1:p.Asp1247Ala
XM_011522481.1:c.3740A>C	XP_011520783.1:p.Asp1247Ala
XR_933134.1:n.539-5027T>G
NM_001351800.1:c.3740A>C	NP_001338729.1:p.Asp1247Ala
NR_147784.1:n.3744A>C
XM_011522479.2:c.4049A>C	XP_011520781.1:p.Asp1350Ala
XM_011522481.3:c.3740A>C	XP_011520783.1:p.Asp1247Ala
XM_017023212.1:c.3914A>C	XP_016878701.1:p.Asp1305Ala
XM_024450261.1:c.4118A>C	XP_024306029.1:p.Asp1373Ala
NM_001171.6:c.4082A>C MANE Select	NP_001162.5:p.Asp1361Ala