Canonical Allele Identifier: CA394884620

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248579A>C (hg19) ; chr16:g.16154722A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154722A>C , CM000678.2:g.16154722A>C	GRCh38
NC_000016.9:g.16248579A>C , CM000678.1:g.16248579A>C	GRCh37
NC_000016.8:g.16156080A>C	NCBI36
NG_007558.2:g.73750T>G
NG_007558.3:g.73896T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*286T>G	ENSP00000483331.2:n.*286T>G
ENST00000205557.12:c.4114T>G MANE Select	ENSP00000205557.7:p.Trp1372Gly
ENST00000640696.1:c.928T>G	ENSP00000492197.1:p.Trp310Gly
ENST00000205557.11:c.4114T>G	ENSP00000205557.7:p.Trp1372Gly
ENST00000456970.6:c.3739T>G	ENSP00000405002.2:n.3739T>G
ENST00000576204.5:n.977T>G
ENST00000622290.4:c.*1323T>G	ENSP00000483331.1:n.*1323T>G
NM_001171.5:c.4114T>G	NP_001162.4:p.Trp1372Gly
XM_011522479.1:c.4081T>G	XP_011520781.1:p.Trp1361Gly
XM_011522480.1:c.3772T>G	XP_011520782.1:p.Trp1258Gly
XM_011522481.1:c.3772T>G	XP_011520783.1:p.Trp1258Gly
XR_933134.1:n.539-5059A>C
NM_001351800.1:c.3772T>G	NP_001338729.1:p.Trp1258Gly
NR_147784.1:n.3776T>G
XM_011522479.2:c.4081T>G	XP_011520781.1:p.Trp1361Gly
XM_011522481.3:c.3772T>G	XP_011520783.1:p.Trp1258Gly
XM_017023212.1:c.3946T>G	XP_016878701.1:p.Trp1316Gly
XM_024450261.1:c.4150T>G	XP_024306029.1:p.Trp1384Gly
NM_001171.6:c.4114T>G MANE Select	NP_001162.5:p.Trp1372Gly