Canonical Allele Identifier: CA394875765

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154961-G-T
• MyVariant Identifiers: chr16:g.16248818G>T (hg19) ; chr16:g.16154961G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154961G>T , CM000678.2:g.16154961G>T	GRCh38
NC_000016.9:g.16248818G>T , CM000678.1:g.16248818G>T	GRCh37
NC_000016.8:g.16156319G>T	NCBI36
NG_007558.2:g.73511C>A
NG_007558.3:g.73657C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.816C>A
ENST00000622290.5:c.*125C>A	ENSP00000483331.2:n.*125C>A
ENST00000205557.12:c.3953C>A MANE Select	ENSP00000205557.7:p.Ala1318Glu
ENST00000640696.1:c.767C>A	ENSP00000492197.1:p.Ala256Glu
ENST00000205557.11:c.3953C>A	ENSP00000205557.7:p.Ala1318Glu
ENST00000456970.6:c.3578C>A	ENSP00000405002.2:n.3578C>A
ENST00000576204.5:n.816C>A
ENST00000622290.4:c.*1162C>A	ENSP00000483331.1:n.*1162C>A
NM_001171.5:c.3953C>A	NP_001162.4:p.Ala1318Glu
XM_011522479.1:c.3920C>A	XP_011520781.1:p.Ala1307Glu
XM_011522480.1:c.3611C>A	XP_011520782.1:p.Ala1204Glu
XM_011522481.1:c.3611C>A	XP_011520783.1:p.Ala1204Glu
XR_932836.1:n.4251C>A
XR_932837.1:n.3989C>A
XR_932838.1:n.4052C>A
XR_933134.1:n.539-4820G>T
NM_001351800.1:c.3611C>A	NP_001338729.1:p.Ala1204Glu
NR_147784.1:n.3615C>A
XM_011522479.2:c.3920C>A	XP_011520781.1:p.Ala1307Glu
XM_011522481.3:c.3611C>A	XP_011520783.1:p.Ala1204Glu
XM_017023212.1:c.3785C>A	XP_016878701.1:p.Ala1262Glu
XM_024450261.1:c.3989C>A	XP_024306029.1:p.Ala1330Glu
XR_932837.3:n.3934C>A
NM_001171.6:c.3953C>A MANE Select	NP_001162.5:p.Ala1318Glu