Canonical Allele Identifier: CA394884684

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154740-G-A
• MyVariant Identifiers: chr16:g.16248597G>A (hg19) ; chr16:g.16154740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154740G>A , CM000678.2:g.16154740G>A	GRCh38
NC_000016.9:g.16248597G>A , CM000678.1:g.16248597G>A	GRCh37
NC_000016.8:g.16156098G>A	NCBI36
NG_007558.2:g.73732C>T
NG_007558.3:g.73878C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.959C>T
ENST00000622290.5:c.*268C>T	ENSP00000483331.2:n.*268C>T
ENST00000205557.12:c.4096C>T MANE Select	ENSP00000205557.7:p.His1366Tyr
ENST00000640696.1:c.910C>T	ENSP00000492197.1:p.His304Tyr
ENST00000205557.11:c.4096C>T	ENSP00000205557.7:p.His1366Tyr
ENST00000456970.6:c.3721C>T	ENSP00000405002.2:n.3721C>T
ENST00000576204.5:n.959C>T
ENST00000622290.4:c.*1305C>T	ENSP00000483331.1:n.*1305C>T
NM_001171.5:c.4096C>T	NP_001162.4:p.His1366Tyr
XM_011522479.1:c.4063C>T	XP_011520781.1:p.His1355Tyr
XM_011522480.1:c.3754C>T	XP_011520782.1:p.His1252Tyr
XM_011522481.1:c.3754C>T	XP_011520783.1:p.His1252Tyr
XR_933134.1:n.539-5041G>A
NM_001351800.1:c.3754C>T	NP_001338729.1:p.His1252Tyr
NR_147784.1:n.3758C>T
XM_011522479.2:c.4063C>T	XP_011520781.1:p.His1355Tyr
XM_011522481.3:c.3754C>T	XP_011520783.1:p.His1252Tyr
XM_017023212.1:c.3928C>T	XP_016878701.1:p.His1310Tyr
XM_024450261.1:c.4132C>T	XP_024306029.1:p.His1378Tyr
NM_001171.6:c.4096C>T MANE Select	NP_001162.5:p.His1366Tyr