Canonical Allele Identifier: CA394875615

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248788A>C (hg19) ; chr16:g.16154931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154931A>C , CM000678.2:g.16154931A>C	GRCh38
NC_000016.9:g.16248788A>C , CM000678.1:g.16248788A>C	GRCh37
NC_000016.8:g.16156289A>C	NCBI36
NG_007558.2:g.73541T>G
NG_007558.3:g.73687T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.846T>G
ENST00000622290.5:c.*155T>G	ENSP00000483331.2:n.*155T>G
ENST00000205557.12:c.3983T>G MANE Select	ENSP00000205557.7:p.Val1328Gly
ENST00000640696.1:c.797T>G	ENSP00000492197.1:p.Val266Gly
ENST00000205557.11:c.3983T>G	ENSP00000205557.7:p.Val1328Gly
ENST00000456970.6:c.3608T>G	ENSP00000405002.2:n.3608T>G
ENST00000576204.5:n.846T>G
ENST00000622290.4:c.*1192T>G	ENSP00000483331.1:n.*1192T>G
NM_001171.5:c.3983T>G	NP_001162.4:p.Val1328Gly
XM_011522479.1:c.3950T>G	XP_011520781.1:p.Val1317Gly
XM_011522480.1:c.3641T>G	XP_011520782.1:p.Val1214Gly
XM_011522481.1:c.3641T>G	XP_011520783.1:p.Val1214Gly
XR_933134.1:n.539-4850A>C
NM_001351800.1:c.3641T>G	NP_001338729.1:p.Val1214Gly
NR_147784.1:n.3645T>G
XM_011522479.2:c.3950T>G	XP_011520781.1:p.Val1317Gly
XM_011522481.3:c.3641T>G	XP_011520783.1:p.Val1214Gly
XM_017023212.1:c.3815T>G	XP_016878701.1:p.Val1272Gly
XM_024450261.1:c.4019T>G	XP_024306029.1:p.Val1340Gly
NM_001171.6:c.3983T>G MANE Select	NP_001162.5:p.Val1328Gly