Canonical Allele Identifier: CA394883964

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16244579G>T (hg19) ; chr16:g.16150722G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150722G>T , CM000678.2:g.16150722G>T	GRCh38
NC_000016.9:g.16244579G>T , CM000678.1:g.16244579G>T	GRCh37
NC_000016.8:g.16152080G>T	NCBI36
NG_007558.2:g.77750C>A
NG_007558.3:g.77896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*431C>A	ENSP00000483331.2:n.*431C>A
ENST00000205557.12:c.4259C>A MANE Select	ENSP00000205557.7:p.Thr1420Asn
ENST00000640696.1:c.1073C>A	ENSP00000492197.1:p.Thr358Asn
ENST00000205557.11:c.4259C>A	ENSP00000205557.7:p.Thr1420Asn
ENST00000456970.6:c.3884C>A	ENSP00000405002.2:n.3884C>A
ENST00000576204.5:n.1122C>A
ENST00000622290.4:c.*1468C>A	ENSP00000483331.1:n.*1468C>A
NM_001171.5:c.4259C>A	NP_001162.4:p.Thr1420Asn
XM_011522479.1:c.4226C>A	XP_011520781.1:p.Thr1409Asn
XM_011522480.1:c.3917C>A	XP_011520782.1:p.Thr1306Asn
XM_011522481.1:c.3917C>A	XP_011520783.1:p.Thr1306Asn
XR_933134.1:n.538+6432G>T
NM_001351800.1:c.3917C>A	NP_001338729.1:p.Thr1306Asn
NR_147784.1:n.3921C>A
XM_011522479.2:c.4226C>A	XP_011520781.1:p.Thr1409Asn
XM_011522481.3:c.3917C>A	XP_011520783.1:p.Thr1306Asn
XM_017023212.1:c.4091C>A	XP_016878701.1:p.Thr1364Asn
XM_024450261.1:c.4295C>A	XP_024306029.1:p.Thr1432Asn
NM_001171.6:c.4259C>A MANE Select	NP_001162.5:p.Thr1420Asn