Canonical Allele Identifier: CA394884654

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248589G>C (hg19) ; chr16:g.16154732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154732G>C , CM000678.2:g.16154732G>C	GRCh38
NC_000016.9:g.16248589G>C , CM000678.1:g.16248589G>C	GRCh37
NC_000016.8:g.16156090G>C	NCBI36
NG_007558.2:g.73740C>G
NG_007558.3:g.73886C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.967C>G
ENST00000622290.5:c.*276C>G	ENSP00000483331.2:n.*276C>G
ENST00000205557.12:c.4104C>G MANE Select	ENSP00000205557.7:p.Asp1368Glu
ENST00000640696.1:c.918C>G	ENSP00000492197.1:p.Asp306Glu
ENST00000205557.11:c.4104C>G	ENSP00000205557.7:p.Asp1368Glu
ENST00000456970.6:c.3729C>G	ENSP00000405002.2:n.3729C>G
ENST00000576204.5:n.967C>G
ENST00000622290.4:c.*1313C>G	ENSP00000483331.1:n.*1313C>G
NM_001171.5:c.4104C>G	NP_001162.4:p.Asp1368Glu
XM_011522479.1:c.4071C>G	XP_011520781.1:p.Asp1357Glu
XM_011522480.1:c.3762C>G	XP_011520782.1:p.Asp1254Glu
XM_011522481.1:c.3762C>G	XP_011520783.1:p.Asp1254Glu
XR_933134.1:n.539-5049G>C
NM_001351800.1:c.3762C>G	NP_001338729.1:p.Asp1254Glu
NR_147784.1:n.3766C>G
XM_011522479.2:c.4071C>G	XP_011520781.1:p.Asp1357Glu
XM_011522481.3:c.3762C>G	XP_011520783.1:p.Asp1254Glu
XM_017023212.1:c.3936C>G	XP_016878701.1:p.Asp1312Glu
XM_024450261.1:c.4140C>G	XP_024306029.1:p.Asp1380Glu
NM_001171.6:c.4104C>G MANE Select	NP_001162.5:p.Asp1368Glu