Canonical Allele Identifier: CA7925286

Gene: ABCC6

Linked Data

• dbSNP Id: rs772015821
• ExAC: 16:16248492 C / A
• gnomAD v2: 16-16248492-C-A
• gnomAD v4: 16-16154635-C-A
• MyVariant Identifiers: chr16:g.16248492C>A (hg19) ; chr16:g.16154635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154635C>A , CM000678.2:g.16154635C>A	GRCh38
NC_000016.9:g.16248492C>A , CM000678.1:g.16248492C>A	GRCh37
NC_000016.8:g.16155993C>A	NCBI36
NG_007558.2:g.73837G>T
NG_007558.3:g.73983G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*373G>T	ENSP00000483331.2:n.*373G>T
ENST00000205557.12:c.4201G>T MANE Select	ENSP00000205557.7:p.Asp1401Tyr
ENST00000640696.1:c.1015G>T	ENSP00000492197.1:p.Asp339Tyr
ENST00000205557.11:c.4201G>T	ENSP00000205557.7:p.Asp1401Tyr
ENST00000456970.6:c.3826G>T	ENSP00000405002.2:n.3826G>T
ENST00000576204.5:n.1064G>T
ENST00000622290.4:c.*1410G>T	ENSP00000483331.1:n.*1410G>T
NM_001171.5:c.4201G>T	NP_001162.4:p.Asp1401Tyr
XM_011522479.1:c.4168G>T	XP_011520781.1:p.Asp1390Tyr
XM_011522480.1:c.3859G>T	XP_011520782.1:p.Asp1287Tyr
XM_011522481.1:c.3859G>T	XP_011520783.1:p.Asp1287Tyr
XR_933134.1:n.539-5146C>A
NM_001351800.1:c.3859G>T	NP_001338729.1:p.Asp1287Tyr
NR_147784.1:n.3863G>T
XM_011522479.2:c.4168G>T	XP_011520781.1:p.Asp1390Tyr
XM_011522481.3:c.3859G>T	XP_011520783.1:p.Asp1287Tyr
XM_017023212.1:c.4033G>T	XP_016878701.1:p.Asp1345Tyr
XM_024450261.1:c.4237G>T	XP_024306029.1:p.Asp1413Tyr
NM_001171.6:c.4201G>T MANE Select	NP_001162.5:p.Asp1401Tyr