Canonical Allele Identifier: CA394884013

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150743-G-T
• MyVariant Identifiers: chr16:g.16244600G>T (hg19) ; chr16:g.16150743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150743G>T , CM000678.2:g.16150743G>T	GRCh38
NC_000016.9:g.16244600G>T , CM000678.1:g.16244600G>T	GRCh37
NC_000016.8:g.16152101G>T	NCBI36
NG_007558.2:g.77729C>A
NG_007558.3:g.77875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*410C>A	ENSP00000483331.2:n.*410C>A
ENST00000205557.12:c.4238C>A MANE Select	ENSP00000205557.7:p.Ala1413Glu
ENST00000640696.1:c.1052C>A	ENSP00000492197.1:p.Ala351Glu
ENST00000205557.11:c.4238C>A	ENSP00000205557.7:p.Ala1413Glu
ENST00000456970.6:c.3863C>A	ENSP00000405002.2:n.3863C>A
ENST00000576204.5:n.1101C>A
ENST00000622290.4:c.*1447C>A	ENSP00000483331.1:n.*1447C>A
NM_001171.5:c.4238C>A	NP_001162.4:p.Ala1413Glu
XM_011522479.1:c.4205C>A	XP_011520781.1:p.Ala1402Glu
XM_011522480.1:c.3896C>A	XP_011520782.1:p.Ala1299Glu
XM_011522481.1:c.3896C>A	XP_011520783.1:p.Ala1299Glu
XR_933134.1:n.538+6453G>T
NM_001351800.1:c.3896C>A	NP_001338729.1:p.Ala1299Glu
NR_147784.1:n.3900C>A
XM_011522479.2:c.4205C>A	XP_011520781.1:p.Ala1402Glu
XM_011522481.3:c.3896C>A	XP_011520783.1:p.Ala1299Glu
XM_017023212.1:c.4070C>A	XP_016878701.1:p.Ala1357Glu
XM_024450261.1:c.4274C>A	XP_024306029.1:p.Ala1425Glu
NM_001171.6:c.4238C>A MANE Select	NP_001162.5:p.Ala1413Glu