Canonical Allele Identifier: CA394884732

Gene: ABCC6

Linked Data

• dbSNP Id: rs58695352
• gnomAD v2: 16-16248612-C-A
• gnomAD v4: 16-16154755-C-A
• MyVariant Identifiers: chr16:g.16248612C>A (hg19) ; chr16:g.16154755C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154755C>A , CM000678.2:g.16154755C>A	GRCh38
NC_000016.9:g.16248612C>A , CM000678.1:g.16248612C>A	GRCh37
NC_000016.8:g.16156113C>A	NCBI36
NG_007558.2:g.73717G>T
NG_007558.3:g.73863G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.944G>T
ENST00000622290.5:c.*253G>T	ENSP00000483331.2:n.*253G>T
ENST00000205557.12:c.4081G>T MANE Select	ENSP00000205557.7:p.Asp1361Tyr
ENST00000640696.1:c.895G>T	ENSP00000492197.1:p.Asp299Tyr
ENST00000205557.11:c.4081G>T	ENSP00000205557.7:p.Asp1361Tyr
ENST00000456970.6:c.3706G>T	ENSP00000405002.2:n.3706G>T
ENST00000576204.5:n.944G>T
ENST00000622290.4:c.*1290G>T	ENSP00000483331.1:n.*1290G>T
NM_001171.5:c.4081G>T	NP_001162.4:p.Asp1361Tyr
XM_011522479.1:c.4048G>T	XP_011520781.1:p.Asp1350Tyr
XM_011522480.1:c.3739G>T	XP_011520782.1:p.Asp1247Tyr
XM_011522481.1:c.3739G>T	XP_011520783.1:p.Asp1247Tyr
XR_933134.1:n.539-5026C>A
NM_001351800.1:c.3739G>T	NP_001338729.1:p.Asp1247Tyr
NR_147784.1:n.3743G>T
XM_011522479.2:c.4048G>T	XP_011520781.1:p.Asp1350Tyr
XM_011522481.3:c.3739G>T	XP_011520783.1:p.Asp1247Tyr
XM_017023212.1:c.3913G>T	XP_016878701.1:p.Asp1305Tyr
XM_024450261.1:c.4117G>T	XP_024306029.1:p.Asp1373Tyr
NM_001171.6:c.4081G>T MANE Select	NP_001162.5:p.Asp1361Tyr