Canonical Allele Identifier: CA394876118

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16155006-G-T
• MyVariant Identifiers: chr16:g.16248863G>T (hg19) ; chr16:g.16155006G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.771C>A
ENST00000622290.5:c.*80C>A	ENSP00000483331.2:n.*80C>A
ENST00000205557.12:c.3908C>A MANE Select	ENSP00000205557.7:p.Ala1303Glu
ENST00000640696.1:c.722C>A	ENSP00000492197.1:p.Ala241Glu
ENST00000205557.11:c.3908C>A	ENSP00000205557.7:p.Ala1303Glu
ENST00000456970.6:c.3533C>A	ENSP00000405002.2:n.3533C>A
ENST00000576204.5:n.771C>A
ENST00000622290.4:c.*1117C>A	ENSP00000483331.1:n.*1117C>A
NM_001171.5:c.3908C>A	NP_001162.4:p.Ala1303Glu
XM_011522479.1:c.3875C>A	XP_011520781.1:p.Ala1292Glu
XM_011522480.1:c.3566C>A	XP_011520782.1:p.Ala1189Glu
XM_011522481.1:c.3566C>A	XP_011520783.1:p.Ala1189Glu
XR_932836.1:n.4206C>A
XR_932837.1:n.3944C>A
XR_932838.1:n.4007C>A
XR_933134.1:n.539-4775G>T
NM_001351800.1:c.3566C>A	NP_001338729.1:p.Ala1189Glu
NR_147784.1:n.3570C>A
XM_011522479.2:c.3875C>A	XP_011520781.1:p.Ala1292Glu
XM_011522481.3:c.3566C>A	XP_011520783.1:p.Ala1189Glu
XM_017023212.1:c.3740C>A	XP_016878701.1:p.Ala1247Glu
XM_024450261.1:c.3944C>A	XP_024306029.1:p.Ala1315Glu
XR_932836.2:n.4152C>A
XR_932837.3:n.3889C>A
XR_932838.3:n.3952C>A
NM_001171.6:c.3908C>A MANE Select	NP_001162.5:p.Ala1303Glu