Canonical Allele Identifier: CA394876115

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248863G>C (hg19) ; chr16:g.16155006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16155006G>C , CM000678.2:g.16155006G>C	GRCh38
NC_000016.9:g.16248863G>C , CM000678.1:g.16248863G>C	GRCh37
NC_000016.8:g.16156364G>C	NCBI36
NG_007558.2:g.73466C>G
NG_007558.3:g.73612C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.771C>G
ENST00000622290.5:c.*80C>G	ENSP00000483331.2:n.*80C>G
ENST00000205557.12:c.3908C>G MANE Select	ENSP00000205557.7:p.Ala1303Gly
ENST00000640696.1:c.722C>G	ENSP00000492197.1:p.Ala241Gly
ENST00000205557.11:c.3908C>G	ENSP00000205557.7:p.Ala1303Gly
ENST00000456970.6:c.3533C>G	ENSP00000405002.2:n.3533C>G
ENST00000576204.5:n.771C>G
ENST00000622290.4:c.*1117C>G	ENSP00000483331.1:n.*1117C>G
NM_001171.5:c.3908C>G	NP_001162.4:p.Ala1303Gly
XM_011522479.1:c.3875C>G	XP_011520781.1:p.Ala1292Gly
XM_011522480.1:c.3566C>G	XP_011520782.1:p.Ala1189Gly
XM_011522481.1:c.3566C>G	XP_011520783.1:p.Ala1189Gly
XR_932836.1:n.4206C>G
XR_932837.1:n.3944C>G
XR_932838.1:n.4007C>G
XR_933134.1:n.539-4775G>C
NM_001351800.1:c.3566C>G	NP_001338729.1:p.Ala1189Gly
NR_147784.1:n.3570C>G
XM_011522479.2:c.3875C>G	XP_011520781.1:p.Ala1292Gly
XM_011522481.3:c.3566C>G	XP_011520783.1:p.Ala1189Gly
XM_017023212.1:c.3740C>G	XP_016878701.1:p.Ala1247Gly
XM_024450261.1:c.3944C>G	XP_024306029.1:p.Ala1315Gly
XR_932836.2:n.4152C>G
XR_932837.3:n.3889C>G
XR_932838.3:n.3952C>G
NM_001171.6:c.3908C>G MANE Select	NP_001162.5:p.Ala1303Gly