Canonical Allele Identifier: CA493797313

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154963-C-T
• MyVariant Identifiers: chr16:g.16248820C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154963C>T , CM000678.2:g.16154963C>T	GRCh38
NC_000016.9:g.16248820C>T , CM000678.1:g.16248820C>T	GRCh37
NC_000016.8:g.16156321C>T	NCBI36
NG_007558.2:g.73509G>A
NG_007558.3:g.73655G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.814G>A
ENST00000622290.5:c.*123G>A	ENSP00000483331.2:n.*123G>A
ENST00000205557.12:c.3951G>A MANE Select	ENSP00000205557.7:p.Glu1317=
ENST00000640696.1:c.765G>A	ENSP00000492197.1:p.Glu255=
ENST00000205557.11:c.3951G>A	ENSP00000205557.7:p.Glu1317=
ENST00000456970.6:c.3576G>A	ENSP00000405002.2:n.3576G>A
ENST00000576204.5:n.814G>A
ENST00000622290.4:c.*1160G>A	ENSP00000483331.1:n.*1160G>A
NM_001171.5:c.3951G>A	NP_001162.4:p.Glu1317=
XM_011522479.1:c.3918G>A	XP_011520781.1:p.Glu1306=
XM_011522480.1:c.3609G>A	XP_011520782.1:p.Glu1203=
XM_011522481.1:c.3609G>A	XP_011520783.1:p.Glu1203=
XR_932836.1:n.4249G>A
XR_932837.1:n.3987G>A
XR_932838.1:n.4050G>A
XR_933134.1:n.539-4818C>T
NM_001351800.1:c.3609G>A	NP_001338729.1:p.Glu1203=
NR_147784.1:n.3613G>A
XM_011522479.2:c.3918G>A	XP_011520781.1:p.Glu1306=
XM_011522481.3:c.3609G>A	XP_011520783.1:p.Glu1203=
XM_017023212.1:c.3783G>A	XP_016878701.1:p.Glu1261=
XM_024450261.1:c.3987G>A	XP_024306029.1:p.Glu1329=
XR_932837.3:n.3932G>A
NM_001171.6:c.3951G>A MANE Select	NP_001162.5:p.Glu1317=