Canonical Allele Identifier: CA493797240
Gene: ABCC6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.16248790C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.16154933C>G , CM000678.2:g.16154933C>G GRCh38
NC_000016.9:g.16248790C>G , CM000678.1:g.16248790C>G GRCh37
NC_000016.8:g.16156291C>G NCBI36
NG_007558.2:g.73539G>C
NG_007558.3:g.73685G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000576204.6:n.844G>C
ENST00000622290.5:c.*153G>C ENSP00000483331.2:n.*153G>C
ENST00000205557.12:c.3981G>C MANE Select ENSP00000205557.7:p.Gly1327=
ENST00000640696.1:c.795G>C ENSP00000492197.1:p.Gly265=
ENST00000205557.11:c.3981G>C ENSP00000205557.7:p.Gly1327=
ENST00000456970.6:c.3606G>C ENSP00000405002.2:n.3606G>C
ENST00000576204.5:n.844G>C
ENST00000622290.4:c.*1190G>C ENSP00000483331.1:n.*1190G>C
NM_001171.5:c.3981G>C NP_001162.4:p.Gly1327=
XM_011522479.1:c.3948G>C XP_011520781.1:p.Gly1316=
XM_011522480.1:c.3639G>C XP_011520782.1:p.Gly1213=
XM_011522481.1:c.3639G>C XP_011520783.1:p.Gly1213=
XR_933134.1:n.539-4848C>G
NM_001351800.1:c.3639G>C NP_001338729.1:p.Gly1213=
NR_147784.1:n.3643G>C
XM_011522479.2:c.3948G>C XP_011520781.1:p.Gly1316=
XM_011522481.3:c.3639G>C XP_011520783.1:p.Gly1213=
XM_017023212.1:c.3813G>C XP_016878701.1:p.Gly1271=
XM_024450261.1:c.4017G>C XP_024306029.1:p.Gly1339=
NM_001171.6:c.3981G>C MANE Select NP_001162.5:p.Gly1327=