Canonical Allele Identifier: CA394883727

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16150609-G-A
• MyVariant Identifiers: chr16:g.16244466G>A (hg19) ; chr16:g.16150609G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150609G>A , CM000678.2:g.16150609G>A	GRCh38
NC_000016.9:g.16244466G>A , CM000678.1:g.16244466G>A	GRCh37
NC_000016.8:g.16151967G>A	NCBI36
NG_007558.2:g.77863C>T
NG_007558.3:g.78009C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*544C>T	ENSP00000483331.2:n.*544C>T
ENST00000205557.12:c.4372C>T MANE Select	ENSP00000205557.7:p.His1458Tyr
ENST00000640696.1:c.1186C>T	ENSP00000492197.1:p.His396Tyr
ENST00000205557.11:c.4372C>T	ENSP00000205557.7:p.His1458Tyr
ENST00000456970.6:c.3997C>T	ENSP00000405002.2:n.3997C>T
ENST00000576204.5:n.1235C>T
ENST00000622290.4:c.*1581C>T	ENSP00000483331.1:n.*1581C>T
NM_001171.5:c.4372C>T	NP_001162.4:p.His1458Tyr
XM_011522479.1:c.4339C>T	XP_011520781.1:p.His1447Tyr
XM_011522480.1:c.4030C>T	XP_011520782.1:p.His1344Tyr
XM_011522481.1:c.4030C>T	XP_011520783.1:p.His1344Tyr
XR_933134.1:n.538+6319G>A
NM_001351800.1:c.4030C>T	NP_001338729.1:p.His1344Tyr
NR_147784.1:n.4034C>T
XM_011522479.2:c.4339C>T	XP_011520781.1:p.His1447Tyr
XM_011522481.3:c.4030C>T	XP_011520783.1:p.His1344Tyr
XM_017023212.1:c.4204C>T	XP_016878701.1:p.His1402Tyr
XM_024450261.1:c.4408C>T	XP_024306029.1:p.His1470Tyr
NM_001171.6:c.4372C>T MANE Select	NP_001162.5:p.His1458Tyr