Canonical Allele Identifier: CA394884485

Gene: ABCC6

Linked Data

• MyVariant Identifiers: chr16:g.16248536C>T (hg19) ; chr16:g.16154679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154679C>T , CM000678.2:g.16154679C>T	GRCh38
NC_000016.9:g.16248536C>T , CM000678.1:g.16248536C>T	GRCh37
NC_000016.8:g.16156037C>T	NCBI36
NG_007558.2:g.73793G>A
NG_007558.3:g.73939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.*329G>A	ENSP00000483331.2:n.*329G>A
ENST00000205557.12:c.4157G>A MANE Select	ENSP00000205557.7:p.Ser1386Asn
ENST00000640696.1:c.971G>A	ENSP00000492197.1:p.Ser324Asn
ENST00000205557.11:c.4157G>A	ENSP00000205557.7:p.Ser1386Asn
ENST00000456970.6:c.3782G>A	ENSP00000405002.2:n.3782G>A
ENST00000576204.5:n.1020G>A
ENST00000622290.4:c.*1366G>A	ENSP00000483331.1:n.*1366G>A
NM_001171.5:c.4157G>A	NP_001162.4:p.Ser1386Asn
XM_011522479.1:c.4124G>A	XP_011520781.1:p.Ser1375Asn
XM_011522480.1:c.3815G>A	XP_011520782.1:p.Ser1272Asn
XM_011522481.1:c.3815G>A	XP_011520783.1:p.Ser1272Asn
XR_933134.1:n.539-5102C>T
NM_001351800.1:c.3815G>A	NP_001338729.1:p.Ser1272Asn
NR_147784.1:n.3819G>A
XM_011522479.2:c.4124G>A	XP_011520781.1:p.Ser1375Asn
XM_011522481.3:c.3815G>A	XP_011520783.1:p.Ser1272Asn
XM_017023212.1:c.3989G>A	XP_016878701.1:p.Ser1330Asn
XM_024450261.1:c.4193G>A	XP_024306029.1:p.Ser1398Asn
NM_001171.6:c.4157G>A MANE Select	NP_001162.5:p.Ser1386Asn